The NIHR Manchester Biomedical Research Centre is a collaboration between the University of Manchester and six leading local NHS organisations, that brings together academics and clinicians to translate scientific breakthroughs into potential new treatments, diagnostics and medical technologies for the benefit of patients, the public, and the health and care system. In 2022, the Manchester BRC was awarded more than £60 million to deliver high-quality, early translational and experimental research across a number of specialist areas.
We are delighted that one of the specialist research themes funded as part of this new Manchester BRC is Rare Conditions. Led by Professors Bill Newman and Sid Banka, the Manchester BRC Rare Conditions Theme aims to employ a range of multi-disciplinary experimental approaches to drive innovation in the prevention, diagnosis and treatment of rare conditions across three major Programmes:
Programme 1. Improved diagnosis, understanding, and prevention: This programme includes novel gene discovery projects, mechanistic studies to understand the causes of rare conditions and investigations into preconception screening to prevent severe rare conditions.
Programme 2. Understanding the Impacts and Outcomes: This programme aims to address various challenges around living with RCs including the psychological impacts on patients and families and the lack of disease -relevant outcome measures which are under researched and much needed to appropriately evaluate potential treatments during trials.
Programme 3. Novel Treatments: Therapies do not exist for most rare conditions. This programme looks to utilise different approaches to advance potential therapies, including the repurposing of drugs and developing novel gene therapies.
Meet the team
Theme leads
Bill Newman
Professor of Translational Genomic Medicine
Siddharth Banka
Professor of Genomic Medicine and Rare Diseases
Programme 1 – Improved diagnosis, understanding, and prevention
Gareth Evans
Professor in Medical Genetics and Cancer Epidemiology
Siddharth Banka
Professor of Genomic Medicine and Rare Diseases
Programme 2 – Understanding the Impacts and Outcomes
Ramona Moldovan
Honorary Professor of Clinical Psychology and Genomics
Katherine Payne
Professor of Health Economics
Programme 3 – Novel Treatments
Simon Jones
Professor in Paediatric Inherited Metabolic Diseases
Robert Wynn
Clinical Professor of Paediatric Haematology and Cellular Therapy
Project managers
Rachel James
Research Manager
Gabrielle Parkinson
Project Manager
Publications
Since the Rare Conditions Theme was incorporated into the NIHR Manchester BRC in 2022, our researchers have published over 200 peer-reviewed articles. These studies have advanced our understanding of rare conditions through publications on: clinical trials, novel genomic discoveries, underlying biological mechanisms and patient involvement.
| PMID | Title | Authors | Citation | First Author | Journal/Book | Publication Year | Create Date | PMCID | NIHMS ID | DOI |
|---|---|---|---|---|---|---|---|---|---|---|
| 38695575 | Meningioma: International Consortium on Meningiomas consensus review on scientific advances and treatment paradigms for clinicians, researchers, and patients | Wang JZ, Landry AP, Raleigh DR, Sahm F, Walsh KM, Goldbrunner R, Yefet LS, Tonn JC, Gui C, Ostrom QT, Barnholtz-Sloan J, Perry A, Ellenbogen Y, Hanemann CO, Jungwirth G, Jenkinson MD, Tabatabai G, Mathiesen TI, McDermott MW, Tatagiba M, la Fougère C, Maas SLN, Galldiks N, Albert NL, Brastianos PK, Ehret F, Minniti G, Lamszus K, Ricklefs FL, Schittenhelm J, Drummond KJ, Dunn IF, Pathmanaban ON, Cohen-Gadol AA, Sulman EP, Tabouret E, Le Rhun E, Mawrin C, Moliterno J, Weller M, Bi WL, Gao A, Yip S, Niyazi M; International Consortium on Meningiomas (ICOM); Aldape K, Wen PY, Short S, Preusser M, Nassiri F, Zadeh G. | Neuro Oncol. 2024 Oct 3;26(10):1742-1780. doi: 10.1093/neuonc/noae082. | Wang JZ | Neuro Oncol | 2024 | 05/02/2024 | PMC11449035 | 10.1093/neuonc/noae082 | |
| 38713105 | FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms | Monaghan RM, Naylor RW, Flatman D, Kasher PR, Williams SG, Keavney BD. | Cardiovasc Res. 2024 Sep 2;120(10):1164-1176. doi: 10.1093/cvr/cvae104. | Monaghan RM | Cardiovasc Res | 2024 | 05/07/2024 | PMC11368125 | 10.1093/cvr/cvae104 | |
| 37947183 | Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. | Genet Med. 2023 Nov 6:101023. doi: 10.1016/j.gim.2023.101023. Online ahead of print. | Jeffries L | Genet Med | 2023 | 11/10/2023 | 10.1016/j.gim.2023.101023 | ||
| 37946251 | Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases | Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. | Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. | Pagnamenta AT | Genome Med | 2023 | 11/10/2023 | PMC10636885 | 10.1186/s13073-023-01240-0 | |
| 37904489 | Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials | Sundby RT, Rhodes SD, Komlodi-Pasztor E, Sarnoff H, Grasso V, Upadhyaya M, Kim A, Evans DG, Blakeley JO, Hanemann CO, Bettegowda C. | Clin Trials. 2023 Oct 31:17407745231203330. doi: 10.1177/17407745231203330. Online ahead of print. | Sundby RT | Clin Trials | 2023 | 01/01/1970 | 10.1177/17407745231203330 | ||
| 37827158 | Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies | Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. | Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. | Nil Z | Am J Hum Genet | 2023 | 10/12/2023 | PMC10645550 | 10.1016/j.ajhg.2023.09.009 | |
| 37808847 | Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features | Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. | medRxiv. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. Preprint. | Ansari M | medRxiv | 2023 | 10/09/2023 | PMC10557843 | 10.1101/2023.09.27.23294269 | |
| 37794925 | Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies | Accogli A, Zaki MS, Al-Owain M, Otaif MY, Jackson A, Argilli E, Chandler KE, De Goede CGEL, Cora T, Alvi JR, Eslahi A, Asl Mohajeri MS, Ashtiani S, Au PYB, Scocchia A, Alakurtti K, Pagnamenta AT, Toosi MB, Karimiani EG, Mojarrad M, Arab F, Duymuş F, Scantlebury MH, Yeşil G, Rosenfeld JA, Türkyılmaz A, Sağer SG, Sultan T, Ashrafzadeh F, Zahra T, Rahman F, Maqbool S, Abdel-Hamid MS, Issa MY, Efthymiou S, Bauer P, Zifarelli G, Salpietro V, Al-Hassnan Z, Banka S, Sherr EH, Gleeson JG, Striano P, Houlden H, Severino M, Maroofian R. | Brain Commun. 2023 Aug 17;5(5):fcad222. doi: 10.1093/braincomms/fcad222. eCollection 2023. | Accogli A | Brain Commun | 2023 | 10/05/2023 | PMC10546953 | 10.1093/braincomms/fcad222 | |
| 37773763 | The management of symptomatic hyperostotic bilateral spheno-orbital meningiomas: patient series | Harris L, Bal JS, Drosos E, Matloob S, Roberts NY, Hammerbeck-Ward C, Pathmanaban O, Evans G, King AT, Rutherford SA, Pollock J, Shoakazemi A. | J Neurosurg Case Lessons. 2023 Sep 25;6(13):CASE23179. doi: 10.3171/CASE23179. Print 2023 Sep 25. | Harris L | J Neurosurg Case Lessons | 2023 | 01/01/1970 | PMC10555579 | 10.3171/CASE23179 | |
| 23967498 | Urofacial Syndrome | Newman WG, Woolf AS, Beaman GM, Roberts NA. | 2013 Aug 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. | Newman WG | GeneReviews(®) | 1993 | 01/01/1970 | |||
| 37745552 | Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease | Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. | medRxiv. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. Preprint. | Martin-Geary AC | medRxiv | 2023 | 01/01/1970 | PMC10516070 | 10.1101/2023.09.12.23295416 | |
| 20301330 | Nevoid Basal Cell Carcinoma Syndrome | Evans DG, Farndon PA. | 2002 Jun 20 [updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. | Evans DG | GeneReviews(®) | 1993 | 01/01/1970 | |||
| 37673932 | Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return | Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. | Eur J Hum Genet. 2023 Sep 7. doi: 10.1038/s41431-023-01451-4. Online ahead of print. | Huth EA | Eur J Hum Genet | 2023 | 09/06/2023 | 10.1038/s41431-023-01451-4 | ||
| 37667371 | Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy | Palmer E, Stepien KM, Campbell C, Barton S, Iosifidis C, Ghosh A, Broomfield A, Woodall A, Wilcox G, Sergouniotis PI, Black GC. | Orphanet J Rare Dis. 2023 Sep 4;18(1):265. doi: 10.1186/s13023-023-02840-0. | Palmer E | Orphanet J Rare Dis | 2023 | 09/04/2023 | PMC10476330 | 10.1186/s13023-023-02840-0 | |
| 37666366 | Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION project | Bluett-Duncan M, Astill D, Charbak R, Clayton-Smith J, Cole S, Cook PA, Cozens J, Keely K, Morris J, Mukherjee R, Murphy E, Turnpenny P, Williams J, Wood AG, Yates LM, Bromley RL. | Neurotoxicol Teratol. 2023 Nov-Dec;100:107292. doi: 10.1016/j.ntt.2023.107292. Epub 2023 Sep 4. | Bluett-Duncan M | Neurotoxicol Teratol | 2023 | 09/04/2023 | 10.1016/j.ntt.2023.107292 | ||
| 37580336 | Predicting congenital renal tract malformation genes using machine learning | Kabir M, Stuart HM, Lopes FM, Fotiou E, Keavney B, Doig AJ, Woolf AS, Hentges KE. | Sci Rep. 2023 Aug 14;13(1):13204. doi: 10.1038/s41598-023-38110-z. | Kabir M | Sci Rep | 2023 | 01/01/1970 | PMC10425350 | 10.1038/s41598-023-38110-z | |
| 37558808 | Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 | Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. | Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9. | Smith TB | Eur J Hum Genet | 2023 | 08/09/2023 | PMC10545766 | 10.1038/s41431-023-01437-2 | |
| 37541189 | HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. | Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. | Niggl E | Am J Hum Genet | 2023 | 08/04/2023 | PMC10432175 | 10.1016/j.ajhg.2023.07.005 | |
| 37473537 | Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice | Andreou T, Ishikawa-Learmonth Y, Bigger BW. | Mol Genet Metab. 2023 Aug;139(4):107651. doi: 10.1016/j.ymgme.2023.107651. Epub 2023 Jul 13. | Andreou T | Mol Genet Metab | 2023 | 01/01/1970 | 10.1016/j.ymgme.2023.107651 | ||
| 37441484 | Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease | Grenier C, Lopes FM, Cueto-González AM, Rovira-Moreno E, Gander R, Jarvis BW, McCloskey KD, Gurney AM, Beaman GM, Newman WG, Woolf AS, Roberts NA. | Kidney Int Rep. 2023 Apr 30;8(7):1417-1429. doi: 10.1016/j.ekir.2023.04.017. eCollection 2023 Jul. | Grenier C | Kidney Int Rep | 2023 | 01/01/1970 | PMC10334403 | 10.1016/j.ekir.2023.04.017 | |
| 37433783 | Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders | Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. | Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. | Gracia-Diaz C | Nat Commun | 2023 | 07/11/2023 | PMC10336078 | 10.1038/s41467-023-39645-5 | |
| 37423316 | Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases | Ciucă A, Banka S, Newman WG, Moldovan R, Kirkham JJ. | J Clin Epidemiol. 2023 Sep;161:84-93. doi: 10.1016/j.jclinepi.2023.07.002. Epub 2023 Jul 7. | Ciucă A | J Clin Epidemiol | 2023 | 07/09/2023 | 10.1016/j.jclinepi.2023.07.002 | ||
| 37407981 | Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC | O'Leary C, Forte G, Mitchell NL, Youshani AS, Dyer A, Wellby MP, Russell KN, Murray SJ, Jolinon N, Jones SA, Stacey K, Davis DM, Henckaerts E, Palmer DN, Kamaly-Asl I, Bigger BW. | J Transl Med. 2023 Jul 5;21(1):437. doi: 10.1186/s12967-023-04208-1. | O'Leary C | J Transl Med | 2023 | 07/05/2023 | PMC10320977 | 10.1186/s12967-023-04208-1 | |
| 37403560 | Neurodevelopment of babies born to mothers with epilepsy: A prospective observational cohort study | Bromley RL, Bullen P, Campbell E, Craig J, Ingham A, Irwin B, Jackson C, Kelly T, Morrow J, Rushton S, García-Fiñana M, Hughes DM, Winterbottom J, Wood A, Yates LM, Clayton-Smith J; NaME Study Group. | Epilepsia. 2023 Sep;64(9):2454-2471. doi: 10.1111/epi.17709. Epub 2023 Jul 16. | Bromley RL | Epilepsia | 2023 | 07/05/2023 | 10.1111/epi.17709 | ||
| 37372421 | Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond | Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A. | Genes (Basel). 2023 Jun 10;14(6):1241. doi: 10.3390/genes14061241. | Barili V | Genes (Basel) | 2023 | 01/01/1970 | PMC10297877 | 10.3390/genes14061241 | |
| 37361999 | Induced pluripotent stem cell model revealed impaired neurovascular interaction in genetic small vessel disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | Zhang W, Zhao X, Qi X, Kimber SJ, Hooper NM, Wang T. | Front Cell Neurosci. 2023 Jun 8;17:1195470. doi: 10.3389/fncel.2023.1195470. eCollection 2023. | Zhang W | Front Cell Neurosci | 2023 | 01/01/1970 | PMC10285224 | 10.3389/fncel.2023.1195470 | |
| 37352860 | Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans | Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Hüning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabě de Angelis M, Mégarbané A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM. | Am J Hum Genet. 2023 Jul 6;110(7):1068-1085. doi: 10.1016/j.ajhg.2023.06.001. Epub 2023 Jun 22. | Guo L | Am J Hum Genet | 2023 | 01/01/1970 | PMC10357479 | 10.1016/j.ajhg.2023.06.001 | |
| 37332344 | Expert consensus on neurodevelopmental outcomes in pregnancy pharmacovigilance studies | Bromley RL, Bickle Graz M, Bluett-Duncan M, Chambers C, Damkier P, Dietrich K, Dolk H, Grant K, Mattson S, Meador KJ, Nordeng H, Oberlander TF, Ornoy A, Revet A, Richardson J, Rovet J, Schuler-Faccini L, Smearman E, Simms V, Vorhees C, Wide K, Wood A, Yates L, Ystrom E, Supraja TA, Adams J. | Front Pharmacol. 2023 Jun 1;14:1094698. doi: 10.3389/fphar.2023.1094698. eCollection 2023. | Bromley RL | Front Pharmacol | 2023 | 01/01/1970 | PMC10270323 | 10.3389/fphar.2023.1094698 | |
| 37287576 | The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis | Gregory GE, Islim AI, Hannan CJ, Jones AP, Hammerbeck-Ward C, Rutherford SA, Freeman SR, Lloyd S, Kalamarides M, Smith MJ, Couper K, McBain CA, Jenkinson MD, Brough D, King AT, Evans DG, Pathmanaban ON. | Neurooncol Adv. 2023 Jun 3;5(Suppl 1):i94-i104. doi: 10.1093/noajnl/vdac127. eCollection 2023 May. | Gregory GE | Neurooncol Adv | 2023 | 06/08/2023 | PMC10243851 | 10.1093/noajnl/vdac127 | |
| 37254875 | Locus conversions are rare in the LRFN5 locus | Sampson J; Genomics England Research Consortium; Houge G, Banka S. | Autism Res. 2023 Jun;16(6):1084-1085. doi: 10.1002/aur.2963. Epub 2023 May 31. | Sampson J | Autism Res | 2023 | 01/01/1970 | 10.1002/aur.2963 | ||
| 37196654 | The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder | Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, et al. | Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. | Rots D | Am J Hum Genet | 2023 | 01/01/1970 | PMC10257005 | 10.1016/j.ajhg.2023.04.008 | |
| 37185294 | A Targeted, Low-Throughput Compound Screen in a Drosophila Model of Neurofibromatosis Type 1 Identifies Simvastatin and BMS-204352 as Potential Therapies for Autism Spectrum Disorder (ASD) | Dyson A, Ryan M, Garg S, Evans DG, Baines RA. | eNeuro. 2023 May 16;10(5):ENEURO.0461-22.2023. doi: 10.1523/ENEURO.0461-22.2023. Print 2023 May. | Dyson A | eNeuro | 2023 | 01/01/1970 | PMC10198605 | 10.1523/ENEURO.0461-22.2023 | |
| 37120077 | Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22 | Koza SA, Tabet AC, Bonaglia MC, Andres S, Anderlid BM, Aten E, Stiefsohn D; European Phelan-McDermid syndrome consortium; Evans DG, van Ravenswaaij-Arts CMA, Kant SG. | Eur J Med Genet. 2023 Jul;66(7):104773. doi: 10.1016/j.ejmg.2023.104773. Epub 2023 Apr 28. | Koza SA | Eur J Med Genet | 2023 | 01/01/1970 | 10.1016/j.ejmg.2023.104773 | ||
| 37119330 | AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model | Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. | Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. | Deng R | Acta Neuropathol | 2023 | 01/01/1970 | PMC10328903 | 10.1007/s00401-023-02579-9 | |
| 37107549 | The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis | Musleh M, Bull A, Linton E, Liu J, Waller S, Hardcastle C, Clayton-Smith J, Sharma V, Black GC, Biswas S, Ashworth JL, Sergouniotis PI. | Genes (Basel). 2023 Mar 25;14(4):791. doi: 10.3390/genes14040791. | Musleh M | Genes (Basel) | 2023 | 01/01/1970 | PMC10137664 | 10.3390/genes14040791 | |
| 20301380 | NF2-Related Schwannomatosis | Evans DG. | 1998 Oct 14 [updated 2023 Apr 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. | Evans DG | GeneReviews(®) | 1993 | 01/01/1970 | |||
| 37024756 | Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing | Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, Yarwood R, Heinz LX, Sedlyarov V, Miranda ND, Taylor A, Grapentine S, Al-Murshedi F, Abot A, Weidinger A, Kutchukian C, Sanchez C, Cronin SJF, Novatchkova M, Kavirayani A, Schuetz T, Haubner B, Haas L, Hagelkruys A, Jackowski S, Kozlov AV, Jacquemond V, Knauf C, Superti-Furga G, Rullman E, Gustafsson T, McDermot J, Lowe M, Radak Z, Chamberlain JS, Bakovic M, Banka S, Penninger JM. | Nat Metab. 2023 Apr;5(4):711. doi: 10.1038/s42255-023-00791-1. | Cikes D | Nat Metab | 2023 | 04/06/2023 | 10.1038/s42255-023-00791-1 | ||
| 37009414 | Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. | HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. | Jackson A | HGG Adv | 2023 | 04/03/2023 | PMC10064225 | 10.1016/j.xhgg.2023.100186 | |
| 36977792 | Modelling human lower urinary tract malformations in zebrafish | Kolvenbach CM, Dworschak GC, Rieke JM, Woolf AS, Reutter H, Odermatt B, Hilger AC. | Mol Cell Pediatr. 2023 Mar 29;10(1):2. doi: 10.1186/s40348-023-00156-4. | Kolvenbach CM | Mol Cell Pediatr | 2023 | 01/01/1970 | PMC10050536 | 10.1186/s40348-023-00156-4 | |
| 36976447 | Core Data Elements for Pregnancy Pharmacovigilance Studies Using Primary Source Data Collection Methods: Recommendations from the IMI ConcePTION Project | Richardson JL, Moore A, Bromley RL, Stellfeld M, Geissbühler Y, Bluett-Duncan M, Winterfeld U, Favre G, Alexe A, Oliver AM, van Rijt-Weetink YRJ, Hodson KK, Rezaallah B, van Puijenbroek EP, Lewis DJ, Yates LM. | Drug Saf. 2023 May;46(5):479-491. doi: 10.1007/s40264-023-01291-7. Epub 2023 Mar 28. | Richardson JL | Drug Saf | 2023 | 01/01/1970 | PMC10164024 | 10.1007/s40264-023-01291-7 | |
| 36952639 | DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity | Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. | Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. | Boussard C | Blood | 2023 | 01/01/1970 | 10.1182/blood.2022018486 | ||
| 36949945 | Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome | Withers SE, Rowlands CF, Tapia VS, Hedley F, Mosneag IE, Crilly S, Rice GI, Badrock AP, Hayes A, Allan SM, Briggs TA, Kasher PR. | Front Immunol. 2023 Mar 6;14:1100967. doi: 10.3389/fimmu.2023.1100967. eCollection 2023. | Withers SE | Front Immunol | 2023 | 01/01/1970 | PMC10025490 | 10.3389/fimmu.2023.1100967 | |
| 36943452 | Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly | Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altmüller J, Nürnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G. | Hum Genet. 2023 Apr;142(4):543-552. doi: 10.1007/s00439-023-02528-2. Epub 2023 Mar 21. | Schnabel F | Hum Genet | 2023 | 01/01/1970 | PMC10060356 | 10.1007/s00439-023-02528-2 | |
| 36941451 | PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing | Cikes D, Elsayad K, Sezgin E, Koitai E, Torma F, Orthofer M, Yarwood R, Heinz LX, Sedlyarov V, Miranda ND, Taylor A, Grapentine S, Al-Murshedi F, Abot A, Weidinger A, Kutchukian C, Sanchez C, Cronin SJF, Novatchkova M, Kavirayani A, Schuetz T, Haubner B, Haas L, Hagelkruys A, Jackowski S, Kozlov AV, Jacquemond V, Knauf C, Superti-Furga G, Rullman E, Gustafsson T, McDermot J, Lowe M, Radak Z, Chamberlain JS, Bakovic M, Banka S, Penninger JM. | Nat Metab. 2023 Mar;5(3):495-515. doi: 10.1038/s42255-023-00766-2. Epub 2023 Mar 20. | Cikes D | Nat Metab | 2023 | 01/01/1970 | 10.1038/s42255-023-00766-2 | ||
| 36897941 | Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice | Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, et al. | Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. | Sheppard SE | Sci Adv | 2023 | 03/10/2023 | PMC10005179 | 10.1126/sciadv.ade1463 | |
| 36762955 | Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis | Halliday D, Emmanouil B, Evans DGR. | Clin Genet. 2023 May;103(5):540-552. doi: 10.1111/cge.14310. Epub 2023 Mar 15. | Halliday D | Clin Genet | 2023 | 02/10/2023 | 10.1111/cge.14310 | ||
| 36689522 | Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects | Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G; Genomics England Research Consortium; McGrath JA, Banka S. | Br J Dermatol. 2023 Jan 23;188(1):75-83. doi: 10.1093/bjd/ljac026. | Jackson A | Br J Dermatol | 2023 | 01/01/1970 | 10.1093/bjd/ljac026 | ||
| 36684394 | ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 | Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, Salvador H, Azizi AA, Mautner V, Röhl C, Peltonen S, Stivaros S, Legius E, Oostenbrink R; ERN GENTURIS NF1 Tumour Management Guideline Group. | EClinicalMedicine. 2023 Jan 13;56:101818. doi: 10.1016/j.eclinm.2022.101818. eCollection 2023 Feb. | Carton C | EClinicalMedicine | 2023 | 01/01/1970 | PMC9845795 | 10.1016/j.eclinm.2022.101818 | |
| 36681873 | A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. | Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. | Denommé-Pichon AS | Genet Med | 2023 | 01/01/1970 | 10.1016/j.gim.2023.100018 | ||
| 36669873 | EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders | Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. | J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. | Lenassi E | J Med Genet | 2023 | 01/01/1970 | PMC10423522 | 10.1136/jmg-2022-108618 | |
| 36649566 | T-cell replete cord transplants give superior outcomes in high-risk and relapsed/refractory pediatric myeloid malignancy | Horgan C, Mullanfiroze K, Rauthan A, Patrick K, Butt NA, Mirci-Danicar O, O'Connor O, Furness C, Deshpande A, Lawson S, Broderick V, Evans P, Gibson B, Roberts W, Ali S, Galani S, Kirkwood AA, Jovanovic J, Dillon R, Virgo P, James B, Rao K, Amrolia PJ, Wynn RF. | Blood Adv. 2023 May 23;7(10):2155-2165. doi: 10.1182/bloodadvances.2022009253. | Horgan C | Blood Adv | 2023 | 01/01/1970 | PMC10206437 | 10.1182/bloodadvances.2022009253 | |
| 36599646 | Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation | Evans DG, Burghel GJ, Smith MJ. | J Med Genet. 2023 Sep;60(9):838-841. doi: 10.1136/jmg-2022-108960. Epub 2023 Jan 4. | Evans DG | J Med Genet | 2023 | 01/04/2023 | 10.1136/jmg-2022-108960 | ||
| 36546557 | Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21 | Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ. | Brain. 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. | Sadler KV | Brain | 2023 | 01/01/1970 | PMC10317144 | 10.1093/brain/awac478 | |
| 36528028 | Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy | Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. | Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. | Paul MS | Am J Hum Genet | 2023 | 01/01/1970 | PMC9892767 | 10.1016/j.ajhg.2022.11.011 | |
| 36503917 | 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum | Ashton CJ, Perveen R, Beaman G, Crisponi G, González-Del Angel A, Garza-Mayén G, Alcántara-Ortigoza MA, O'Sullivan J, Clayton-Smith J. | Clin Dysmorphol. 2023 Jan 1;32(1):7-13. doi: 10.1097/MCD.0000000000000443. Epub 2022 Nov 28. | Ashton CJ | Clin Dysmorphol | 2023 | 12/12/2022 | 10.1097/MCD.0000000000000443 | ||
| 36478354 | Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence | Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM. | Am J Med Genet A. 2023 Mar;191(3):730-741. doi: 10.1002/ajmg.a.63067. Epub 2022 Dec 7. | Nayak SS | Am J Med Genet A | 2023 | 12/08/2022 | 10.1002/ajmg.a.63067 | ||
| 36385166 | Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition | Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. | Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. | Palmer EE | Mol Psychiatry | 2023 | 01/01/1970 | PMC9908558 | 10.1038/s41380-022-01852-9 | |
| 36331550 | Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia | Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. | Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. | Morsy H | Genet Med | 2023 | 11/04/2022 | PMC10620943 | 10.1016/j.gim.2022.09.013 | |
| 36271826 | Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy | Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A, Wright R, Fairbanks L, Bierau J, Bowden L, Schwahn B, Horman A, Banka S. | Am J Med Genet A. 2023 Jan;191(1):234-237. doi: 10.1002/ajmg.a.62999. Epub 2022 Oct 22. | Sitaram S | Am J Med Genet A | 2023 | 01/01/1970 | PMC10091700 | 10.1002/ajmg.a.62999 | |
| 36228738 | Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome | Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, et al. | J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. | Leiding JW | J Allergy Clin Immunol | 2023 | 01/01/1970 | PMC10081938 | NIHMS1843105 | 10.1016/j.jaci.2022.09.002 |
| 36171661 | Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome | Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group; Vos JR. | J Natl Cancer Inst. 2023 Jan 10;115(1):93-103. doi: 10.1093/jnci/djac188. | Hendricks LAJ | J Natl Cancer Inst | 2023 | 01/01/1970 | 10.1093/jnci/djac188 | ||
| 36169901 | Wiskott Aldrich Syndrome-2 Caused by Novel Wiskott Aldrich Syndrome Protein-Interacting Protein (WIP) Deficiency Is Associated with Juvenile Myelomonocytic Leukaemia - a Case Report | Senthil S, Thrasher AJ, Gilmour KC, Wright T, Wynn RF. | J Clin Immunol. 2023 Jan;43(1):82-84. doi: 10.1007/s10875-022-01367-6. Epub 2022 Sep 28. | Senthil S | J Clin Immunol | 2023 | 01/01/1970 | 10.1007/s10875-022-01367-6 | ||
| 36084042 | Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies | Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. | Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. | Daich Varela M | Hum Mol Genet | 2023 | 09/09/2022 | PMC9896476 | 10.1093/hmg/ddac227 | |
| 36074901 | ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy | Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. | Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. | Mattison KA | Brain | 2023 | 09/08/2022 | PMC10319782 | 10.1093/brain/awac330 | |
| 35997807 | De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis | Timberlake AT, Kiziltug E, Jin SC, Nelson-Williams C, Loring E; Yale Center for Genome Analysis; Allocco A, Marlier A, Banka S, Stuart H, Passos-Buenos MR, Rosa R, Rogatto SR, Tonne E, Stiegler AL, Boggon TJ, Alperovich M, Steinbacher D, Staffenberg DA, Flores RL, Persing JA, Kahle KT, Lifton RP. | Hum Genet. 2023 Jan;142(1):21-32. doi: 10.1007/s00439-022-02477-2. Epub 2022 Aug 23. | Timberlake AT | Hum Genet | 2023 | 01/01/1970 | 10.1007/s00439-022-02477-2 | ||
| 39112714 | DNA-sensing inflammasomes cause recurrent atherosclerotic stroke | Cao J, Roth S, Zhang S, Kopczak A, Mami S, Asare Y, Georgakis MK, Messerer D, Horn A, Shemer R, Jacqmarcq C, Picot A, Green JP, Schlegl C, Li X, Tomas L, Dutsch A, Liman TG, Endres M, Wernsdorf SR, Fürle C, Carofiglio O, Zhu J, Brough D; DEMDAS Study Group; Hornung V, Dichgans M, Vivien D, Schulz C, Dor Y, Tiedt S, Sager HB, Grosse GM, Liesz A. | Nature. 2024 Sep;633(8029):433-441. doi: 10.1038/s41586-024-07803-4. Epub 2024 Aug 7. | Cao J | Nature | 2024 | 08/07/2024 | PMC11390481 | 10.1038/s41586-024-07803-4 | |
| 38645094 | De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders | Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. | medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438. | Chen Y | medRxiv | 2024 | 01/01/1970 | PMC11030480 | 10.1101/2024.04.07.24305438 | |
| 39673075 | More and more pleiotropy within the IL-6 family of cytokines | Rose-John S, Jones SA. | FEBS J. 2025 Feb;292(3):519-522. doi: 10.1111/febs.17355. Epub 2024 Dec 13. | Rose-John S | FEBS J | 2025 | 01/01/1970 | PMC11796313 | 10.1111/febs.17355 | |
| 38991538 | De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome | Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, et al. | Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. | Chen Y | Nature | 2024 | 07/11/2024 | PMC11338827 | 10.1038/s41586-024-07773-7 | |
| 38898121 | Exploring the benefits, harms and costs of genomic newborn screening for rare diseases | Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, Wilkinson D, Ellard S, MacArthur DG, Stark Z. | Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x. | Baple EL | Nat Med | 2024 | 01/01/1970 | 10.1038/s41591-024-03055-x | ||
| 38481382 | Detection of signature double-negative T cells is a predictive marker to identify autoimmune lymphoproliferative syndrome associated with FAS loss of function | Eisenhauer N, Miano M, Naumann-Bartsch N, Leyh J, Dell'Orso G, Aigner M, Fecker G, Hinze C, Wittkowski H, Bruns H, Zierk J, Metzler M, Arkwright PD, Graw F, Mackensen A, Völkl S. | Am J Hematol. 2024 May;99(5):997-1000. doi: 10.1002/ajh.27286. Epub 2024 Mar 14. | Eisenhauer N | Am J Hematol | 2024 | 01/01/1970 | 10.1002/ajh.27286 | ||
| 38758780 | Hypoxia coordinates the spatial landscape of myeloid cells within glioblastoma to affect survival | Haley MJ, Bere L, Minshull J, Georgaka S, Garcia-Martin N, Howell G, Coope DJ, Roncaroli F, King A, Wedge DC, Allan SM, Pathmanaban ON, Brough D, Couper KN. | Sci Adv. 2024 May 17;10(20):eadj3301. doi: 10.1126/sciadv.adj3301. Epub 2024 May 17. | Haley MJ | Sci Adv | 2024 | 01/01/1970 | PMC11100569 | 10.1126/sciadv.adj3301 | |
| 39547427 | Retinopathy in Mucopolysaccharidoses | Noor M, Mehana O, Mata G, Aslam T, Parry N, McGrath O, Sornalingam K, Ghosh A, Jones S, Ashworth J. | Ophthalmology. 2025 Apr;132(4):461-475. doi: 10.1016/j.ophtha.2024.11.013. Epub 2024 Nov 14. | Noor M | Ophthalmology | 2025 | 01/01/1970 | 10.1016/j.ophtha.2024.11.013 | ||
| 38968140 | Outcomes of hematopoietic stem cell transplantation in 813 pediatric patients with Fanconi anemia | Lum SH, Eikema DJ, Piepenbroek B, Wynn RF, Samarasinghe S, Dalissier A, Kalwak K, Ayas M, Hamladji RM, Yesilipek A, Dalle JH, Uckan-Cetinkaya D, Bierings M, Kupesiz A, Halahleh K, Skorobogatova E, Öztürk G, Faraci M, Renard C, Evans P, Corbacioglu S, Locatelli F, Dufour C, Risitano A, Peffault de Latour R. | Blood. 2024 Sep 19;144(12):1329-1342. doi: 10.1182/blood.2023022751. | Lum SH | Blood | 2024 | 07/05/2024 | 10.1182/blood.2023022751 | ||
| 38579284 | Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival | Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH. | Blood. 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. | Vallée TC | Blood | 2024 | 04/05/2024 | 10.1182/blood.2023021411 | ||
| 38251460 | Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases | Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. | Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. | Kerkhof J | Genet Med | 2024 | 01/01/1970 | 10.1016/j.gim.2024.101075 | ||
| 40011789 | Rare disease gene association discovery in the 100,000 Genomes Project | Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison HH, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong ACM, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. | Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. Online ahead of print. | Cipriani V | Nature | 2025 | 01/01/1970 | 10.1038/s41586-025-08623-w | ||
| 39013459 | Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes | Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, et al. | Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. | Rots D | Am J Hum Genet | 2024 | 01/01/1970 | PMC11339626 | 10.1016/j.ajhg.2024.06.009 | |
| 39648759 | Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene | Mcneill A, Douglas AGL, Macleod R, Lahiri N; UK PREDICTIVE NEUROGENETICS TESTING CONSORTIUM. | Amyotroph Lateral Scler Frontotemporal Degener. 2024 Dec 9:1-2. doi: 10.1080/21678421.2024.2438153. Online ahead of print. | Mcneill A | Amyotroph Lateral Scler Frontotemporal Degener | 2024 | 12/09/2024 | 10.1080/21678421.2024.2438153 | ||
| 38454547 | Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome | Faridi R, Stratton P, Salmeri N, Morell RJ, Khan AA, Usmani MA, Newman WG, Riazuddin S, Friedman TB. | Clin Genet. 2024 May;105(5):584-586. doi: 10.1111/cge.14514. Epub 2024 Mar 7. | Faridi R | Clin Genet | 2024 | 03/08/2024 | PMC10990821 | NIHMS1972179 | 10.1111/cge.14514 |
| 39013458 | Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome | Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, Hofman S, Smith A, Valenzuela MI, Srivastava S, Frazier Z, Maystadt I, Piscopo C, Merla G, Balasubramanian M, Santen GWE, Metcalfe K, Park SM, Pasquier L, Banka S, Donnai D, Weisberg D, Strobl-Wildemann G, Wagemans A, Vreeburg M, Baralle D, Foulds N, Scurr I, Brunetti-Pierri N, van Hagen JM, Bijlsma EK, Hakonen AH, Courage C, Genevieve D, Pinson L, Forzano F, Deshpande C, Kluskens ML, Welling L, Plomp AS, Vanhoutte EK, Kalsner L, Hol JA, Putoux A, Lazier J, Vasudevan P, Ames E, O'Shea J, Lederer D, Fleischer J, O'Connor M, Pauly M, Vasileiou G, Reis A, Kiraly-Borri C, Bouman A, Barnett C, Nezarati M, Borch L, Beunders G, Özcan K, Miot S, Volker-Touw CML, van Gassen KLI, Cappuccio G, Janssens K, Mor N, Shomer I, Dominissini D, Tedder ML, Muir AM, Sadikovic B, Brunner HG, Vissers LELM, Shinkai Y, Kleefstra T. | Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15. | Rots D | Am J Hum Genet | 2024 | 01/01/1970 | PMC11339614 | 10.1016/j.ajhg.2024.06.008 | |
| 38527803 | Type I interferon regulates interleukin-1beta and IL-18 production and secretion in human macrophages | Díaz-Pino R, Rice GI, San Felipe D, Pepanashvili T, Kasher PR, Briggs TA, López-Castejón G. | Life Sci Alliance. 2024 Mar 25;7(6):e202302399. doi: 10.26508/lsa.202302399. Print 2024 Jun. | Díaz-Pino R | Life Sci Alliance | 2024 | 01/01/1970 | PMC10963587 | 10.26508/lsa.202302399 | |
| 39825153 | Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses | Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, et al. | Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. | Laurie S | Nat Med | 2025 | 01/01/1970 | PMC11835725 | 10.1038/s41591-024-03420-w | |
| 39108782 | Structural determination of oleanane-28,13β-olide and taraxerane-28,14β-olide fluoro-lactonization products from the reaction of oleanolic acid with Selectfluor(TM) | Eadsforth MA, Kong L, Whitehead G, Vitórica-Yrezábal IJ, O'Keefe RT, Bryce RA, Whitehead RC. | Acta Crystallogr E Crystallogr Commun. 2024 Jul 15;80(Pt 8):857-862. doi: 10.1107/S2056989024006480. eCollection 2024 Aug 1. | Eadsforth MA | Acta Crystallogr E Crystallogr Commun | 2024 | 08/07/2024 | PMC11299754 | 10.1107/S2056989024006480 | |
| 38822122 | Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes | Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S; Solve-RD consortium; Lohmann K, Ossowski S. | Eur J Hum Genet. 2024 Aug;32(8):998-1004. doi: 10.1038/s41431-024-01637-4. Epub 2024 May 31. | Demidov G | Eur J Hum Genet | 2024 | 01/01/1970 | PMC11291474 | 10.1038/s41431-024-01637-4 | |
| 39269903 | Key roles of C2/GAP domains in SYNGAP1-related pathophysiology | Katsanevaki D, Till SM, Buller-Peralta I, Nawaz MS, Louros SR, Kapgal V, Tiwari S, Walsh D, Anstey NJ, Petrović NG, Cormack A, Salazar-Sanchez V, Harris A, Farnworth-Rowson W, Sutherland A, Watson TC, Dimitrov S, Jackson AD, Arkell D, Biswal S, Dissanayake KN, Mizen LAM, Perentos N, Jones MW, Cousin MA, Booker SA, Osterweil EK, Chattarji S, Wyllie DJA, Gonzalez-Sulser A, Hardt O, Wood ER, Kind PC. | Cell Rep. 2024 Sep 24;43(9):114733. doi: 10.1016/j.celrep.2024.114733. Epub 2024 Sep 12. | Katsanevaki D | Cell Rep | 2024 | 01/01/1970 | 10.1016/j.celrep.2024.114733 | ||
| 38643511 | Alternative donor transplantation for severe aplastic anemia: a comparative study of the SAAWP EBMT | Montoro J, Eikema DJ, Tuffnell J, Potter V, Kalwak K, Halkes CJM, Kulagin A, Collin M, Wynn RF, Robinson S, Nicholson E, Sengeloev H, Clay J, Halahleh K, Skorobogatova E, Sanz J, Passweg J, Mielke S, Ryhänen S, Carpenter B, Gedde-Dahl T, Tholouli E, Fanin R, Lewalle P, Kulasekararaj A, Risitano A, Peffault de Latour R. | Blood. 2024 Jul 18;144(3):323-333. doi: 10.1182/blood.2024024173. | Montoro J | Blood | 2024 | 01/01/1970 | 10.1182/blood.2024024173 | ||
| 39306848 | Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles | Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. | HGG Adv. 2024 Oct 10;5(4):100337. doi: 10.1016/j.xhgg.2024.100337. Epub 2024 Sep 21. | Haghshenas S | HGG Adv | 2024 | 01/01/1970 | PMC11440774 | 10.1016/j.xhgg.2024.100337 | |
| 39229486 | C9orf72 dipeptides activate the NLRP3 inflammasome | Rivers-Auty J, Hoyle C, Pointer A, Lawrence C, Pickering-Brown S, Brough D, Ryan S. | Brain Commun. 2024 Aug 20;6(5):fcae282. doi: 10.1093/braincomms/fcae282. eCollection 2024. | Rivers-Auty J | Brain Commun | 2024 | 09/04/2024 | PMC11369816 | 10.1093/braincomms/fcae282 | |
| 38478259 | Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre | Evans DG, Green K, Burghel GJ, Forde C, Lalloo F, Schlecht H, Woodward ER. | Fam Cancer. 2024 Jun;23(2):187-195. doi: 10.1007/s10689-024-00360-9. Epub 2024 Mar 13. | Evans DG | Fam Cancer | 2024 | 01/01/1970 | PMC11153258 | 10.1007/s10689-024-00360-9 | |
| 39177649 | Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease | Chandler JC, Jafree DJ, Malik S, Pomeranz G, Ball M, Kolatsi-Joannou M, Piapi A, Mason WJ, Benest AV, Bates DO, Letunovska A, Al-Saadi R, Rabant M, Boyer O, Pritchard-Jones K, Winyard PJ, Mason AS, Woolf AS, Waters AM, Long DA. | J Pathol. 2024 Oct;264(2):212-227. doi: 10.1002/path.6339. Epub 2024 Aug 23. | Chandler JC | J Pathol | 2024 | 01/01/1970 | 10.1002/path.6339 | ||
| 38918870 | Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease | de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A. | Orphanet J Rare Dis. 2024 Jun 25;19(1):244. doi: 10.1186/s13023-024-03219-5. | de Castro MJ | Orphanet J Rare Dis | 2024 | 01/01/1970 | PMC11201851 | 10.1186/s13023-024-03219-5 | |
| 38362852 | The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2 | Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM. | Genet Med. 2024 May;26(5):101101. doi: 10.1016/j.gim.2024.101101. Epub 2024 Feb 13. | Hinić S | Genet Med | 2024 | 01/01/1970 | 10.1016/j.gim.2024.101101 | ||
| 38742203 | Editorial: The problem of childhood hypoglycemia, volume II | Banerjee I, Mohnike K. | Front Endocrinol (Lausanne). 2024 Apr 29;15:1412976. doi: 10.3389/fendo.2024.1412976. eCollection 2024. | Banerjee I | Front Endocrinol (Lausanne) | 2024 | 01/01/1970 | PMC11089208 | 10.3389/fendo.2024.1412976 | |
| 39830270 | De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa | Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, et al. | medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. | Quinodoz M | medRxiv | 2025 | 01/01/1970 | PMC11741465 | 10.1101/2025.01.06.24317169 | |
| 39117604 | Pyroptosis leads to loss of centrosomal integrity in macrophages | Bai S, Martin-Sanchez F, Brough D, Lopez-Castejon G. | Cell Death Discov. 2024 Aug 8;10(1):354. doi: 10.1038/s41420-024-02093-1. | Bai S | Cell Death Discov | 2024 | 08/08/2024 | PMC11310477 | 10.1038/s41420-024-02093-1 | |
| 39074263 | Association of busulfan exposure and outcomes after HCT for patients with an inborn error of immunity | Bognàr T, Garcia-Rosa M, Lalmohamed A, Güngör T, Hauri-Hohl M, Prockop S, Oram L, Pai SY, Brooks J, Savic RM, Dvorak CC, Long-Boyle JR, Krajinovic M, Bittencourt H, Teyssier AC, Théorêt Y, Martinez C, Egberts TCG, Morales E, Slatter M, Cuvelier GDE, Chiesa R, Wynn RF, Coussons M, Cicalese MP, Ansari M, Long SE, Ebens CL, Lust H, Chaudhury S, Nath CE, Shaw PJ, Keogh SJ, van der Stoep MYEC, Bredius R, Lindemans CA, Boelens JJ, Bartelink IH. | Blood Adv. 2024 Oct 8;8(19):5137-5145. doi: 10.1182/bloodadvances.2024013275. | Bognàr T | Blood Adv | 2024 | 01/01/1970 | PMC11470247 | 10.1182/bloodadvances.2024013275 | |
| 39692517 | Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder | Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. | Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. | Aughey GN | Brain | 2024 | 01/01/1970 | 10.1093/brain/awae363 | ||
| 39496396 | Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper | Evans DG, Burkitt-Wright E, Ealing J, Vassello G, Eelloo J, Lee A. | J Med Genet. 2024 Nov 25;61(12):1132-1134. doi: 10.1136/jmg-2024-110396. | Evans DG | J Med Genet | 2024 | 11/04/2024 | 10.1136/jmg-2024-110396 | ||
| 39143376 | Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency | Utsumi T, Tsumura M, Yashiro M, Kato Z, Noma K, Sakura F, Kagawa R, Mizoguchi Y, Karakawa S, Ohnishi H, Cunningham-Rundles C, Arkwright PD, Kobayashi M, Kanegane H, Bogunovic D, Boisson B, Casanova JL, Asano T, Okada S. | J Clin Immunol. 2024 Aug 15;44(8):178. doi: 10.1007/s10875-024-01785-8. | Utsumi T | J Clin Immunol | 2024 | 01/01/1970 | PMC11324660 | 10.1007/s10875-024-01785-8 | |
| 39501102 | Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members | Howard J, Chaouch A, Douglas AGL, MacLeod R, Roggenbuck J, McNeill A. | Eur J Hum Genet. 2025 Jan;33(1):7-13. doi: 10.1038/s41431-024-01718-4. Epub 2024 Nov 5. | Howard J | Eur J Hum Genet | 2025 | 11/05/2024 | PMC11711763 | 10.1038/s41431-024-01718-4 | |
| 39448799 | BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations | Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. | Eur J Hum Genet. 2025 Mar;33(3):312-324. doi: 10.1038/s41431-024-01701-z. Epub 2024 Oct 24. | Peron A | Eur J Hum Genet | 2025 | 01/01/1970 | PMC11893779 | 10.1038/s41431-024-01701-z | |
| 38297832 | Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features | Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. | HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. | Ansari M | HGG Adv | 2024 | 02/01/2024 | PMC10876629 | 10.1016/j.xhgg.2024.100273 | |
| 38622139 | Intention-to-treat outcomes utilising a stringent event definition in children and young people treated with tisagenlecleucel for r/r ALL through a national access scheme | Oporto Espuelas M, Burridge S, Kirkwood AA, Bonney D, Watts K, Shenton G, Jalowiec KA, O'Reilly MA, Roddie C, Castleton A, Clesham K, Nicholson E, Alajangi R, Prabhu S, George L, Uttenthal B, Gabelli M, Neill L, Besley C, Chaganti S, Wynn RF, Bartram J, Chiesa R, Lucchini G, Pavasovic V, Rao A, Rao K, Silva J, Samarasinghe S, Vora A, Clark P, Cummins M, Marks DI, Amrolia P, Hough R, Ghorashian S. | Blood Cancer J. 2024 Apr 15;14(1):66. doi: 10.1038/s41408-024-01038-2. | Oporto Espuelas M | Blood Cancer J | 2024 | 01/01/1970 | PMC11018620 | 10.1038/s41408-024-01038-2 | |
| 38584412 | Congenital Hyperinsulinism - Notes for the General Pediatrician | Estebanez MS, Worth C, Banerjee I. | Indian Pediatr. 2024 Jun 15;61(6):578-584. Epub 2024 Apr 5. | Estebanez MS | Indian Pediatr | 2024 | 04/08/2024 | |||
| 38751117 | DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. | HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15. | Trajkova S | HGG Adv | 2024 | 01/01/1970 | PMC11216013 | 10.1016/j.xhgg.2024.100309 | |
| 39622295 | Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4(+) IL-9-expressing cells | Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. | J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01283-1. doi: 10.1016/j.jaci.2024.11.031. Online ahead of print. | Rao G | J Allergy Clin Immunol | 2024 | 12/02/2024 | 10.1016/j.jaci.2024.11.031 | ||
| 39407332 | Developmental trajectories in infants and pre-school children with Neurofibromatosis 1 | Slevin H, Kehinde F, Begum-Ali J, Ellis C, Burkitt-Wright E, Green J, Johnson MH, Pasco G, Charman T, Jones EJH, Garg S; EDEN-STAARS team. | Mol Autism. 2024 Oct 15;15(1):45. doi: 10.1186/s13229-024-00621-5. | Slevin H | Mol Autism | 2024 | 01/01/1970 | PMC11481376 | 10.1186/s13229-024-00621-5 | |
| 39986708 | Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action | Elvidge KL, Farrar MA, Christodoulou J, Kava MP, Johnson AM, Patterson MC, Jones SA, Zuberi S, Wilmshurst JM, Smith NJC. | Pediatr Neurol. 2025 Mar;164:A6-A7. doi: 10.1016/j.pediatrneurol.2025.02.005. | Elvidge KL | Pediatr Neurol | 2025 | 01/01/1970 | 10.1016/j.pediatrneurol.2025.02.005 | ||
| 39701600 | Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome | Cuvertino S, Garner T, Martirosian E, Walusimbi B, Kimber SJ, Banka S, Stevens A. | Brief Bioinform. 2024 Nov 22;26(1):bbae667. doi: 10.1093/bib/bbae667. | Cuvertino S | Brief Bioinform | 2024 | 01/01/1970 | PMC11658816 | 10.1093/bib/bbae667 | |
| 39322607 | Neonatal encephalopathy: a systematic review of reported treatment outcomes | Quirke F, Biesty L, Battin M, Bloomfield FH, Daly M, Finucane E, Healy P, Hurley T, Kirkham JJ, Molloy E, Haas DM, Meher S, Ní Bhraonáin E, Walker K, Webbe J, Devane D. | BMJ Paediatr Open. 2024 Sep 25;8(1):e002510. doi: 10.1136/bmjpo-2024-002510. | Quirke F | BMJ Paediatr Open | 2024 | 01/01/1970 | PMC11425948 | 10.1136/bmjpo-2024-002510 | |
| 38776170 | The use of parent-completed questionnaires to investigate developmental outcomes in large populations of children exposed to antiseizure medications in pregnancy | Bluett-Duncan M, Bullen P, Campbell E, Clayton-Smith J, Craig J, García-Fiñana M, Hughes DM, Ingham A, Irwin B, Jackson C, Kelly T, Morrow J, Rushton S, Winterbottom J, Wood AG, Yates LM, Bromley RL. | Epilepsia. 2024 Jul;65(7):2017-2029. doi: 10.1111/epi.18001. Epub 2024 May 22. | Bluett-Duncan M | Epilepsia | 2024 | 01/01/1970 | 10.1111/epi.18001 | ||
| 39349469 | The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism | Green DJ, Michaud V, Lasseaux E, Plaisant C; UK Biobank Eye and Vision Consortium; Fitzgerald T, Birney E, Black GC, Arveiler B, Sergouniotis PI. | Nat Commun. 2024 Sep 30;15(1):8436. doi: 10.1038/s41467-024-52763-y. | Green DJ | Nat Commun | 2024 | 01/01/1970 | PMC11443028 | 10.1038/s41467-024-52763-y | |
| 39018614 | Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses | Muenzer J, Ho C, Lau H, Dant M, Fuller M, Boulos N, Dickson P, Ellinwood NM, Jones SA, Zanelli E, O'Neill C. | Mol Genet Metab. 2024 Aug;142(4):108535. doi: 10.1016/j.ymgme.2024.108535. Epub 2024 Jul 10. | Muenzer J | Mol Genet Metab | 2024 | 01/01/1970 | 10.1016/j.ymgme.2024.108535 | ||
| 39473505 | Opportunities for digitally-enabled personalization and decision support for pediatric growth hormone therapy | Dimitri P, van Dommelen P, Banerjee I, Bellazzi R, Ciaccio M, de Arriba Muñoz A, Loche S, Zaini AA, Halabi A, Bagha M, Koledova E. | Front Endocrinol (Lausanne). 2024 Oct 15;15:1436778. doi: 10.3389/fendo.2024.1436778. eCollection 2024. | Dimitri P | Front Endocrinol (Lausanne) | 2024 | 01/01/1970 | PMC11518754 | 10.3389/fendo.2024.1436778 | |
| 39630935 | Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial | Crow YJ, Briggs TA, Eleftheriou D, Parida A, Battison C, Giddings A, Kennel T, Parker RA; AGS‐RTIs Study Group. | Dev Med Child Neurol. 2024 Dec 4:10.1111/dmcn.16199. doi: 10.1111/dmcn.16199. Online ahead of print. | Crow YJ | Dev Med Child Neurol | 2024 | 12/04/2024 | PMC7617231 | EMS201699 | 10.1111/dmcn.16199 |
| 39006526 | Platform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases | Dhaenens BAE, Heimann G, Bakker A, Nievo M, Ferner RE, Evans DG, Wolkenstein P, Leubner J, Potratz C, Carton C, Iloeje U, Kirk G, Blakeley JO, Plotkin S, Fisher MJ, Kim A, Driever PH, Azizi AA, Widemann BC, Gross A, Parke T, Legius E, Oostenbrink R. | Neurooncol Pract. 2024 Jan 4;11(4):395-403. doi: 10.1093/nop/npae001. eCollection 2024 Aug. | Dhaenens BAE | Neurooncol Pract | 2024 | 01/01/1970 | PMC11241353 | 10.1093/nop/npae001 | |
| 38458124 | Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment | Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. | Mol Genet Metab. 2024 May;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Epub 2024 Feb 20. | Wu THY | Mol Genet Metab | 2024 | 03/08/2024 | 10.1016/j.ymgme.2024.108349 | ||
| 40087579 | Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 | Begum-Ali J, Mason L, Charman T, Johnson MH, Green J, Garg S, Jones EJH; and the STAARS and EDEN Teams. | J Neurodev Disord. 2025 Mar 14;17(1):12. doi: 10.1186/s11689-025-09599-4. | Begum-Ali J | J Neurodev Disord | 2025 | 01/01/1970 | PMC11907931 | 10.1186/s11689-025-09599-4 | |
| 39371131 | Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype | Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. | medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. | Smith TB | medRxiv | 2024 | 10/07/2024 | PMC11451657 | 10.1101/2024.08.19.24312079 | |
| 39848286 | Academic Achievement of Children With Neurofibromatosis Type 1 | Hou Y, Zong X, Wu X, Liu D, Wolters PL, Janusz J, Walsh KS, Morris SM, Payne JM, Pride N, Garg S, Robinson L, Stavinoha PL. | Pediatrics. 2025 Feb 1;155(2):e2024067016. doi: 10.1542/peds.2024-067016. | Hou Y | Pediatrics | 2025 | 01/01/1970 | 10.1542/peds.2024-067016 | ||
| 39289521 | Outcomes of patients undergoing allogeneic haematopoietic stem cell transplantation for congenital amegakaryocytic thrombocytopenia; a study on behalf of the PDWP of the EBMT | Aldebert C, Fahd M, Galimard JE, Ghemlas IA, Zecca M, Silva J, Mohseny A, Kupesiz A, Hamladji RM, Miranda N, Güngör T, Wynn RF, Merli P, Sundin M, Faraci M, Diaz-de-Heredia C, Burkhardt B, Bordon V, Angoso M, Bader P, Ifversen M, Herrera Arroyo C, Maximova N, Riesco S, Stein J, Dalissier A, Locatelli F, Kalwak K, Dalle JH, Corbacioglu S. | Bone Marrow Transplant. 2024 Dec;59(12):1717-1725. doi: 10.1038/s41409-024-02416-x. Epub 2024 Sep 18. | Aldebert C | Bone Marrow Transplant | 2024 | 01/01/1970 | 10.1038/s41409-024-02416-x | ||
| 39798569 | DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders | Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. | Am J Hum Genet. 2025 Feb 6;112(2):394-413. doi: 10.1016/j.ajhg.2024.12.012. Epub 2025 Jan 10. | Lessel I | Am J Hum Genet | 2025 | 01/11/2025 | PMC11866971 | 10.1016/j.ajhg.2024.12.012 | |
| 38225386 | Cytogenetic abnormalities predict survival after allogeneic hematopoietic stem cell transplantation for pediatric acute myeloid leukemia: a PDWP/EBMT study | Sharma A, Galimard JE, Pryce A, Bhoopalan SV, Dalissier A, Dalle JH, Locatelli F, Jubert C, Mirci-Danicar O, Kitra-Roussou V, Bertrand Y, Fagioli F, Rialland F, Biffi A, Wynn RF, Michel G, Tambaro FP, Al-Ahmari A, Tbakhi A, Furness CL, Diaz MA, Sedlacek P, Bodova I, Faraci M, Rao K, Kleinschmidt K, Petit A, Gibson B, Bhatt NS, Kalwak K, Corbacioglu S. | Bone Marrow Transplant. 2024 Apr;59(4):451-458. doi: 10.1038/s41409-024-02197-3. Epub 2024 Jan 15. | Sharma A | Bone Marrow Transplant | 2024 | 01/01/1970 | 10.1038/s41409-024-02197-3 | ||
| 38837003 | A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure | Beal F, Forrester N, Watson E, Williams M, Buckton A, Marlais M, Maxted A; UK Gene Panel Study Group; Woolf AS, Saleem MA, Platt C. | J Nephrol. 2024 Jun;37(5):1273-1284. doi: 10.1007/s40620-024-01964-1. Epub 2024 Jun 5. | Beal F | J Nephrol | 2024 | 06/05/2024 | 10.1007/s40620-024-01964-1 | ||
| 38875182 | A secreted proteomic footprint for stem cell pluripotency | Lewis PA, Silajdžić E, Smith H, Bates N, Smith CA, Mancini FE, Knight D, Denning C, Brison DR, Kimber SJ. | PLoS One. 2024 Jun 14;19(6):e0299365. doi: 10.1371/journal.pone.0299365. eCollection 2024. | Lewis PA | PLoS One | 2024 | 01/01/1970 | PMC11178176 | 10.1371/journal.pone.0299365 | |
| 40033430 | Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity | Bennett JJ, Saint-Martin C, Neumann B, Männistö JME, Houghton JAL, Empting S, Johnson MB, Laver TW, Locke JM, Spurrier B, Wakeling MN, Banerjee I, Dastamani A, Demirbilek H, Mitchell J, Stange M; International Congenital Hyperinsulinism Consortium; Mohnike K, Arnoux JB, Owens NDL, Zenker M, Bellanné-Chantelot C, Flanagan SE. | Genome Med. 2025 Mar 3;17(1):17. doi: 10.1186/s13073-025-01440-w. | Bennett JJ | Genome Med | 2025 | 03/03/2025 | PMC11874398 | 10.1186/s13073-025-01440-w | |
| 39585318 | Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers | Li S, Madanat-Harjuoja L, Leslie G, Barnes DR, Bolla MK, Dennis J, Parsons MT, Apostolou P, Arnold N, Bosse K, On Behalf Of Embrace Collaborators ACA, Cook J, Engel C, Evans DG, Fostira F, Frone MN, Gehrig A, Greene MH, Hackmann K, Hahnen E, Harbeck N, Hauke J, Hentschel J, Horvath J, Izatt L, Kiechle M, Konstantopoulou I, Lalloo F, Yie JNY, Niederacher D, Ritter J, Santamariña M, Schmutzler RK, Searle C, Sutter C, Tischkowitz M, Tripathi V, Vega A, Wallaschek H, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Zhao E, Easton DF, Antoniou AC, Chenevix-Trench G, Rebbeck TR, Diller LR. | J Natl Cancer Inst. 2024 Nov 25:djae306. doi: 10.1093/jnci/djae306. Online ahead of print. | Li S | J Natl Cancer Inst | 2024 | 01/01/1970 | 10.1093/jnci/djae306 | ||
| 39467507 | Virtual screening-led design of inhibitor scaffolds for the NLRP3 inflammasome | El-Sayed S, McMahon E, Musleh S, Freeman S, Brough D, Kasher PR, Bryce RA. | Bioorg Chem. 2024 Dec;153:107909. doi: 10.1016/j.bioorg.2024.107909. Epub 2024 Oct 22. | El-Sayed S | Bioorg Chem | 2024 | 01/01/1970 | 10.1016/j.bioorg.2024.107909 | ||
| 39562721 | Graft-versus-host disease after anti-CD19 chimeric antigen receptor T-cell therapy following allogeneic hematopoietic cell transplantation: a transplant complications and paediatric diseases working parties joint EBMT study | Ortí G, Peczynski C, Boreland W, O'Reilly M, von Bonin M, Balduzzi A, Besley C, Kalwak K, Ryhänen S, Güngör T, Wynn RF, Bader P, Mielke S, Blaise D, Amrolia P, Yakoub-Agha I, Calkoen F, Schubert ML, Potter V, Pichler H, Kröger N, Kwon M, Sengeloev H, Torrent A, Chalandon Y, van Gorkom G, Koenecke C, Graham C, Schoemans H, Moiseev I, Penack O, Peric Z. | Leukemia. 2025 Feb;39(2):431-437. doi: 10.1038/s41375-024-02467-5. Epub 2024 Nov 19. | Ortí G | Leukemia | 2025 | 01/01/1970 | 10.1038/s41375-024-02467-5 | ||
| 39725012 | Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform | Burke KA, O'Sullivan J, Godfrey N, Sharma V, Hilton S, Wright SJ, Greaves NS, Newman WG, McDermott JH. | J Mol Diagn. 2025 Mar;27(3):209-215. doi: 10.1016/j.jmoldx.2024.12.001. Epub 2024 Dec 24. | Burke KA | J Mol Diagn | 2025 | 01/01/1970 | 10.1016/j.jmoldx.2024.12.001 | ||
| 38382890 | Using behavioral science to increase core outcome set use in trials | Matvienko-Sikar K, Hussey S, Mellor K, Byrne M, Clarke M, Kirkham JJ, Kottner J, Quirke F, Saldanha IJ, Smith V, Toomey E, Williamson PR. | J Clin Epidemiol. 2024 Apr;168:111285. doi: 10.1016/j.jclinepi.2024.111285. Epub 2024 Feb 19. | Matvienko-Sikar K | J Clin Epidemiol | 2024 | 01/01/1970 | 10.1016/j.jclinepi.2024.111285 | ||
| 39038744 | Inclusion of harm outcomes in core outcome sets requires careful consideration | Tay J, Robinson C, Blazeby J, Loke Y, Lowery A, Alkhaffaf B, Kirkham JJ. | J Clin Epidemiol. 2024 Oct;174:111474. doi: 10.1016/j.jclinepi.2024.111474. Epub 2024 Jul 20. | Tay J | J Clin Epidemiol | 2024 | 01/01/1970 | 10.1016/j.jclinepi.2024.111474 | ||
| 39574879 | Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder | Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. | medRxiv [Preprint]. 2024 Nov 2:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716. | Maroni MJ | medRxiv | 2024 | 01/01/1970 | PMC11581099 | 10.1101/2024.10.31.24314716 | |
| 38849599 | Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene | Andhika NS, Biswas S, Hardcastle C, Green DJ, Ramsden SC, Birney E, Black GC, Sergouniotis PI. | Eur J Hum Genet. 2024 Aug;32(8):1005-1013. doi: 10.1038/s41431-024-01638-3. Epub 2024 Jun 7. | Andhika NS | Eur J Hum Genet | 2024 | 06/07/2024 | PMC11292026 | 10.1038/s41431-024-01638-3 | |
| 38195356 | Bladder Neck Surgery is not Routinely Needed to Achieve Urinary Continence in Patients with Primary Epispadias | Mariotto A, Keene DJ, Alshafei AR, Powell J, Cserni T, Cervellione RM. | J Pediatr Surg. 2024 Jun;59(6):1182-1185. doi: 10.1016/j.jpedsurg.2023.12.017. Epub 2023 Dec 23. | Mariotto A | J Pediatr Surg | 2024 | 01/09/2024 | 10.1016/j.jpedsurg.2023.12.017 | ||
| 40011961 | Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities | Dempsey J, Daniels J, Katiri R, Thomas S, Metryka A, de Kruijf M, Wilkinson S, Jones SA, Bruce IA. | Orphanet J Rare Dis. 2025 Feb 26;20(1):88. doi: 10.1186/s13023-025-03581-y. | Dempsey J | Orphanet J Rare Dis | 2025 | 01/01/1970 | PMC11866613 | 10.1186/s13023-025-03581-y | |
| 39051401 | Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK | Bean K, Jones SA, Chakrapani A, Vijay S, Wu T, Church H, Chanson C, Olaye A, Miller B, Jensen I, Pang F. | Int J Neonatal Screen. 2024 Jun 26;10(3):45. doi: 10.3390/ijns10030045. | Bean K | Int J Neonatal Screen | 2024 | 01/01/1970 | PMC11270184 | 10.3390/ijns10030045 | |
| 39117622 | Proximity labelling of pro-interleukin-1α reveals evolutionary conserved nuclear interactions | Wellens R, Tapia VS, Seoane PI, Bennett H, Adamson A, Coutts G, Rivers-Auty J, Lowe M, Green JP, Lopez-Castejon G, Brough D, Hoyle C. | Nat Commun. 2024 Aug 8;15(1):6750. doi: 10.1038/s41467-024-50901-0. | Wellens R | Nat Commun | 2024 | 08/08/2024 | PMC11310415 | 10.1038/s41467-024-50901-0 | |
| 38460234 | The generation and validation of a dual cardiac HAND1-Tomato NKX2-5-GFP human embryonic stem cell line UMANe002-A-3 | Lynch AT, Douglas M, Kimber SJ, Birket MJ. | Stem Cell Res. 2024 Jun;77:103342. doi: 10.1016/j.scr.2024.103342. Epub 2024 Mar 4. | Lynch AT | Stem Cell Res | 2024 | 03/09/2024 | 10.1016/j.scr.2024.103342 | ||
| 38898203 | Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study | Parfett M, Johnson F, Bennett R, Ulph F. | Eur J Hum Genet. 2024 Sep;32(9):1159-1165. doi: 10.1038/s41431-024-01614-x. Epub 2024 Jun 19. | Parfett M | Eur J Hum Genet | 2024 | 01/01/1970 | PMC11369248 | 10.1038/s41431-024-01614-x | |
| 38775430 | The NLRP3 inflammasome is essential for IL-18 production in a murine model of macrophage activation syndrome | Gleeson TA, Kaiser C, Lawrence CB, Brough D, Allan SM, Green JP. | Dis Model Mech. 2024 Jul 1;17(7):dmm050762. doi: 10.1242/dmm.050762. Epub 2024 Jul 30. | Gleeson TA | Dis Model Mech | 2024 | 01/01/1970 | PMC11317095 | 10.1242/dmm.050762 | |
| 38788724 | Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations | Bantounas I, Rooney KM, Lopes FM, Tengku F, Woods S, Zeef LAH, Lin IH, Kuba SY, Bates N, Hummelgaard S, Hillman KA, Cereghini S, Woolf AS, Kimber SJ. | Stem Cell Reports. 2024 Jun 11;19(6):859-876. doi: 10.1016/j.stemcr.2024.04.011. Epub 2024 May 23. | Bantounas I | Stem Cell Reports | 2024 | 01/01/1970 | PMC11297557 | 10.1016/j.stemcr.2024.04.011 | |
| 38017610 | Changes in audiovestibular handicap following treatment of vestibular schwannomas | Campbell T, Goh SJ, Wadeson AM, Freeman SR, Rutherford SA, King AT, Hammerbeck-Ward CL, Pathmanaban O, Entwistle H, Bird J, Axon PR, Moffat DA, Lloyd SK. | J Laryngol Otol. 2024 Jun;138(6):608-614. doi: 10.1017/S002221512300213X. Epub 2023 Nov 29. | Campbell T | J Laryngol Otol | 2024 | 01/01/1970 | PMC11096832 | 10.1017/S002221512300213X | |
| 38691870 | A watch, wait, and rescan approach for incidental benign-appearing notochordal lesions of the skull base | Usher IE, Drosos E, Morsy A, Wadeson A, Laitt R, Abdulla S, Madhavan A, Halliday J, Rutherford S, King AT, Pathmanaban ON. | Neurosurg Focus. 2024 May;56(5):E2. doi: 10.3171/2024.2.FOCUS23912. | Usher IE | Neurosurg Focus | 2024 | 05/01/2024 | 10.3171/2024.2.FOCUS23912 | ||
| 38565915 | Risk factors for infection and outcomes in infants with neonatal encephalopathy: a cohort study | Odd D, Sabir H, Jones SA, Gale C, Chakkarapani E. | Pediatr Res. 2024 Aug;96(3):785-791. doi: 10.1038/s41390-024-03157-9. Epub 2024 Apr 2. | Odd D | Pediatr Res | 2024 | 04/02/2024 | PMC11499269 | 10.1038/s41390-024-03157-9 | |
| 38332515 | Improved Recovery after Vestibular Schwannoma Excision with Intratympanic Gentamicin Prehabilitation | Trudel M, Stapleton EJ, Wadeson AM, Spiller W, North HJ, Heal C, Sebastian J, Freeman SR, Rutherford SA, Entwistle H, Hammerbeck-Ward CL, Pathmanaban O, King AT, Lloyd SKW. | Laryngoscope. 2024 Jul;134(7):3316-3322. doi: 10.1002/lary.31298. Epub 2024 Feb 8. | Trudel M | Laryngoscope | 2024 | 02/09/2024 | 10.1002/lary.31298 | ||
| 38852770 | Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study | Mengel E, Scarpa M, Guffon N, Jones SA, Goriya V, Msihid J, Dyevre V, Rodriguez C, Gasparic M, Nalysnyk L, Laredo F, Pulikottil-Jacob R. | Eur J Med Genet. 2024 Aug;70:104954. doi: 10.1016/j.ejmg.2024.104954. Epub 2024 Jun 8. | Mengel E | Eur J Med Genet | 2024 | 06/09/2024 | 10.1016/j.ejmg.2024.104954 | ||
| 38605124 | Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements | Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, Kershaw M, Honey EM, Murphy N, Giri D, Nath S, Tangari Saredo A, Banerjee I, Hussain K, Owens NDL, Flanagan SE. | Eur J Hum Genet. 2024 Jul;32(7):813-818. doi: 10.1038/s41431-024-01593-z. Epub 2024 Apr 11. | Laver TW | Eur J Hum Genet | 2024 | 04/11/2024 | PMC11220097 | 10.1038/s41431-024-01593-z | |
| 39774103 | Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals | Mistry PK, Cassiman D, Jones SA, Lachmann R, Lukina E, Prada CE, Wasserstein MP, Thurberg BL, Foster MC, Patel RM, Underhill LH, Peterschmitt MJ. | Hepatol Commun. 2025 Jan 7;9(1):e0621. doi: 10.1097/HC9.0000000000000621. eCollection 2025 Jan 1. | Mistry PK | Hepatol Commun | 2025 | 01/08/2025 | PMC11717527 | 10.1097/HC9.0000000000000621 | |
| 40059635 | Radiotherapy results in decreased time to second cancer in children with Li Fraumeni syndrome | Woodward ER, Kilday JP, Ng S, Kelsey A, Evans DGR. | J Natl Cancer Inst. 2025 Mar 10:djaf057. doi: 10.1093/jnci/djaf057. Online ahead of print. | Woodward ER | J Natl Cancer Inst | 2025 | 03/10/2025 | 10.1093/jnci/djaf057 | ||
| 40136632 | Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening | de Castro Lopez MJ, White FJ, Holmes V, Roberts J, Wu THY, Cooper JA, Church HJ, Petts G, Wynn RF, Jones SA, Ghosh A. | Int J Neonatal Screen. 2025 Feb 25;11(1):17. doi: 10.3390/ijns11010017. | de Castro Lopez MJ | Int J Neonatal Screen | 2025 | 01/01/1970 | PMC11943304 | 10.3390/ijns11010017 | |
| 40009967 | Parent-infant interaction in the context of emerging neurodiversities: Neurofibromatosis 1 and elevated likelihood of ADHD | Kaplan G, Garg S, Smith DM, Begum-Ali J, Jones EJH, Green J, Charman T, Johnson MH, Wan MW; EDEN-STAARS team. | Infant Behav Dev. 2025 Feb 25;79:102036. doi: 10.1016/j.infbeh.2025.102036. Online ahead of print. | Kaplan G | Infant Behav Dev | 2025 | 01/01/1970 | 10.1016/j.infbeh.2025.102036 | ||
| 38925914 | NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study | Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N, Lavin T, Halliday J, King AT, Rutherford S, Pathmanaban ON, Lloyd S, Freeman S, Halliday D, Parry A, Axon P, Buttimore J, Afridi S, Obholzer R, Laitt R, Thomas O, Stivaros SM, Vassallo G, Evans DG. | J Med Genet. 2024 Aug 29;61(9):856-860. doi: 10.1136/jmg-2024-110065. | Forde C | J Med Genet | 2024 | 01/01/1970 | 10.1136/jmg-2024-110065 | ||
| 38616550 | First Accuracy and User-Experience Evaluation of New Continuous Glucose Monitoring System for Hypoglycemia Due to Hyperinsulinism | Worth C, Worthington S, Auckburally S, O'Shea E, Ahmad S, Fullwood C, Salomon-Estebanez M, Banerjee I. | J Diabetes Sci Technol. 2024 Apr 14:19322968241245923. doi: 10.1177/19322968241245923. Online ahead of print. | Worth C | J Diabetes Sci Technol | 2024 | 01/01/1970 | PMC11572253 | 10.1177/19322968241245923 | |
| 39252529 | Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II | Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D. | J Inherit Metab Dis. 2024 Sep 9. doi: 10.1002/jimd.12790. Online ahead of print. | Muenzer J | J Inherit Metab Dis | 2024 | 09/10/2024 | 10.1002/jimd.12790 | ||
| 39447557 | Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome | Malhotra N, Hanania T, Yau D, Gilbert C, Morgan K, Wakeling E, Jones WD, Samuels M, Banerjee I, Dastamani A. | Horm Res Paediatr. 2024 Oct 24:1-9. doi: 10.1159/000542234. Online ahead of print. | Malhotra N | Horm Res Paediatr | 2024 | 01/01/1970 | 10.1159/000542234 | ||
| 39139299 | The development of pGALSplus: evaluating feasibility and acceptability of an assessment to facilitate the identification and triage of children with musculoskeletal presentations | Mercer V, Smith N, Guglieri M, Jones SA, Parr JR, Foster HE, Jandial S. | Rheumatol Adv Pract. 2024 Aug 1;8(3):rkae089. doi: 10.1093/rap/rkae089. eCollection 2024. | Mercer V | Rheumatol Adv Pract | 2024 | 01/01/1970 | PMC11319642 | 10.1093/rap/rkae089 | |
| 40013370 | Quality of Life Outcomes in Vestibular Schwannoma: A Prospective Analysis of Treatment Modalities | Hotchkies A, Heward E, Wadeson A, Heal C, Freeman SR, Rutherford SA, King AT, Pathmanaban O, Halliday J, Whitfield G, McBain C, Colaco RJ, Campbell T, Goh SJ, Lloyd SKW. | Laryngoscope. 2025 Feb 27. doi: 10.1002/lary.32080. Online ahead of print. | Hotchkies A | Laryngoscope | 2025 | 01/01/1970 | 10.1002/lary.32080 | ||
| 38598033 | Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3 | Tsilifis C, Spegarova JS, Good R, Griffin H, Engelhardt KR, Graham S, Hughes S, Arkwright PD, Hambleton S, Gennery AR. | J Clin Immunol. 2024 Apr 10;44(4):98. doi: 10.1007/s10875-024-01699-5. | Tsilifis C | J Clin Immunol | 2024 | 04/10/2024 | PMC11006754 | 10.1007/s10875-024-01699-5 | |
| 38863195 | Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity | Lin S, Robson AG, Thompson DA, Stepien KM, Lachmann R, Footitt E, Czyz O, Chandrasekhar S, Schiff E, Iosifidis C, Black GC, Michaelides M, Mahroo OA, Arno G, Webster AR. | Clin Genet. 2024 Oct;106(4):505-511. doi: 10.1111/cge.14573. Epub 2024 Jun 11. | Lin S | Clin Genet | 2024 | 06/12/2024 | PMC7616411 | EMS196839 | 10.1111/cge.14573 |
| 38666560 | Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions | Bowen E, Langston J, Fletcher H, Domek J, Ulph F. | J Genet Couns. 2025 Feb;34(1):e1903. doi: 10.1002/jgc4.1903. Epub 2024 Apr 26. | Bowen E | J Genet Couns | 2025 | 01/01/1970 | PMC11735185 | 10.1002/jgc4.1903 | |
| 39695102 | Tumor- and host-derived heparanase-2 (Hpa2) attenuates tumorigenicity: role of Hpa2 in macrophage polarization and BRD7 nuclear localization | Soboh S, Vorontsova A, Farhoud M, Barash U, Naroditsky I, Gross-Cohen M, Weissmann M, Nishioka Y, Woolf AS, Roberts NA, Shaked Y, Ilan N, Vlodavsky I. | Cell Death Dis. 2024 Dec 18;15(12):894. doi: 10.1038/s41419-024-07262-9. | Soboh S | Cell Death Dis | 2024 | 01/01/1970 | PMC11655850 | 10.1038/s41419-024-07262-9 | |
| 38776926 | The impact of inversions across 33,924 families with rare disease from a national genome sequencing project | Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. | Am J Hum Genet. 2024 Jun 6;111(6):1140-1164. doi: 10.1016/j.ajhg.2024.04.018. Epub 2024 May 21. | Pagnamenta AT | Am J Hum Genet | 2024 | 01/01/1970 | PMC11179413 | 10.1016/j.ajhg.2024.04.018 | |
| 39584500 | Dasiglucagon in Children with Congenital Hyperinsulinism up to 1 Year of Age: Results from a Randomized Clinical Trial | De León DD, Banerjee I, Kummer S, Birch S, Bøge E, Ivkovic J, Kendall DM, Thornton PS. | J Clin Endocrinol Metab. 2024 Nov 25:dgae818. doi: 10.1210/clinem/dgae818. Online ahead of print. | De León DD | J Clin Endocrinol Metab | 2024 | 01/01/1970 | 10.1210/clinem/dgae818 | ||
| 39564699 | Continuous Glucose Monitoring-Derived Glycemic Phenotyping of Childhood Hypoglycemia due to Hyperinsulinism: A Year-long Prospective Nationwide Observational Study | Worth C, Auckburally S, Worthington S, Ahmad S, O'Shea E, Senniappan S, Shaikh G, Dastamani A, Ferrara-Cook C, Betz S, Salomon-Estebanez M, Banerjee I. | J Diabetes Sci Technol. 2024 Nov 20:19322968241255842. doi: 10.1177/19322968241255842. Online ahead of print. | Worth C | J Diabetes Sci Technol | 2024 | 01/01/1970 | PMC11577547 | 10.1177/19322968241255842 | |
| 39470951 | Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party | Buso H, Adam E, Arkwright PD, Bhattad S, Hamidieh AA, Behfar M, Belot A, Benezech S, Chan AY, Crow YJ, Dvorak CC, Flinn AM, Kapoor U, Lankester A, Kobayashi M, Matsumura R, Mottaghipisheh H, Okada S, Ouachee M, Parvaneh N, Ramprakash S, Satwani P, Sharafian S, Triaille C, Wynn RF, Movahedi N, Ziaee V, Williams E, Slatter M, Gennery AR. | J Clin Immunol. 2024 Oct 29;45(1):35. doi: 10.1007/s10875-024-01819-1. | Buso H | J Clin Immunol | 2024 | 01/01/1970 | PMC11522153 | 10.1007/s10875-024-01819-1 | |
| 40114603 | Microvascular aberrations found in human polycystic kidneys are an early feature in a Pkd1 mutant mouse model | Jafree DJ, Perera C, Ball M, Tolomeo D, Pomeranz G, Wilson L, Davis B, Mason WJ, Funk EM, Kolatsi-Joannou M, Polschi R, Malik S, Stewart BJ, Price KL, Mitchell H, Motallebzadeh R, Muto Y, Lees R, Needham S, Moulding D, Chandler JC, Nandanwar S, Walsh CL, Winyard PJD, Scambler PJ, Hägerling R, Clatworthy MR, Humphreys BD, Lythgoe MF, Walker-Samuel S, Woolf AS, Long DA. | Dis Model Mech. 2025 Mar 21:dmm.052024. doi: 10.1242/dmm.052024. Online ahead of print. | Jafree DJ | Dis Model Mech | 2025 | 01/01/1970 | 10.1242/dmm.052024 | ||
| 39209702 | Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis | Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG. | J Med Genet. 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. | Smith MJ | J Med Genet | 2024 | 01/01/1970 | 10.1136/jmg-2024-110217 | ||
| 38302265 | Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis | Perez-Becerril C, Burghel GJ, Hartley C, Rowlands CF, Evans DG, Smith MJ. | J Med Genet. 2024 Apr 19;61(5):452-458. doi: 10.1136/jmg-2023-109586. | Perez-Becerril C | J Med Genet | 2024 | 02/01/2024 | 10.1136/jmg-2023-109586 | ||
| 39608663 | Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions | Ciuca A, Banka S, Clancy T, Jones S, Kirkham JJ, Newman WG, Payne K, Moldovan R. | J Clin Epidemiol. 2025 Feb;178:111617. doi: 10.1016/j.jclinepi.2024.111617. Epub 2024 Nov 26. | Ciuca A | J Clin Epidemiol | 2025 | 01/01/1970 | 10.1016/j.jclinepi.2024.111617 | ||
| 38990208 | Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome | Lopes FM, Grenier C, Jarvis BW, Al Mahdy S, Lène-McKay A, Gurney AM, Newman WG, Waddington SN, Woolf AS, Roberts NA. | Elife. 2024 Jul 11;13:RP91828. doi: 10.7554/eLife.91828. | Lopes FM | Elife | 2024 | 07/11/2024 | PMC11239176 | 10.7554/eLife.91828 | |
| 38604752 | Systematic reanalysis of copy number losses of uncertain clinical significance | Burghel GJ, Ellingford JM, Wright R, Bradford L, Miller J, Watt C, Edgerley J, Naeem F, Banka S. | J Med Genet. 2024 Jun 20;61(7):621-625. doi: 10.1136/jmg-2023-109559. | Burghel GJ | J Med Genet | 2024 | 04/11/2024 | 10.1136/jmg-2023-109559 | ||
| 39097820 | Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid | Haghshenas S, Putoux A, Reilly J, Levy MA, Relator R, Ghosh S, Kerkhof J, McConkey H, Edery P, Lesca G, Besson A, Coubes C, Willems M, Ruiz-Pallares N, Barat-Houari M, Tizzano EF, Valenzuela I, Sabbagh Q, Clayton-Smith J, Jackson A, O'Sullivan J, Bromley R, Banka S, Genevieve D, Sadikovic B. | Genet Med. 2024 Oct;26(10):101226. doi: 10.1016/j.gim.2024.101226. Epub 2024 Jul 31. | Haghshenas S | Genet Med | 2024 | 08/04/2024 | 10.1016/j.gim.2024.101226 | ||
| 38449586 | Reported Hearing Outcome Measures Following Stereotactic Radiosurgery for Vestibular Schwannoma: A Scoping Review | Almufarrij I, Hannan CJ, King AT, Vail A, Heal C, Whitfield G, Pathmanaban ON, Lloyd SK, Munro KJ. | J Neurol Surg B Skull Base. 2023 Feb 22;85(2):123-130. doi: 10.1055/a-2021-8762. eCollection 2024 Apr. | Almufarrij I | J Neurol Surg B Skull Base | 2023 | 03/07/2024 | PMC10914468 | 10.1055/a-2021-8762 | |
| 39611183 | Alternatively activated macrophages are associated with faster growth rate in vestibular schwannoma | Gregory GE, Haley MJ, Jones AP, Hannan CJ, Evans DG, King AT, Paszek P, Pathmanaban ON, Couper KN, Brough D. | Brain Commun. 2024 Nov 12;6(6):fcae400. doi: 10.1093/braincomms/fcae400. eCollection 2024. | Gregory GE | Brain Commun | 2024 | 01/01/1970 | PMC11604085 | 10.1093/braincomms/fcae400 | |
| 38962752 | Evidence for inflammation in normal-appearing brain regions in patients with growing sporadic vestibular schwannoma: A PET study | Alfaifi B, Hinz R, Jackson A, Wadeson A, Pathmanaban ON, Hammerbeck-Ward C, Rutherford SA, King AT, Lewis D, Coope DJ. | Neurooncol Adv. 2024 Jun 8;6(1):vdae094. doi: 10.1093/noajnl/vdae094. eCollection 2024 Jan-Dec. | Alfaifi B | Neurooncol Adv | 2024 | 07/04/2024 | PMC11221070 | 10.1093/noajnl/vdae094 | |
| 39458007 | Very Early-Onset IBD-Associated IL-18opathy Treated with an Anti-IL-18 Antibody | Guha A, Diaz-Pino R, Fagbemi A, Hughes SM, Wynn RF, Lopez-Castejon G, Arkwright PD. | J Clin Med. 2024 Oct 11;13(20):6058. doi: 10.3390/jcm13206058. | Guha A | J Clin Med | 2024 | 01/01/1970 | PMC11508724 | 10.3390/jcm13206058 | |
| 39417135 | Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency | Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. | medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. | Thomas HB | medRxiv | 2024 | 01/01/1970 | PMC11483032 | 10.1101/2024.10.10.24315152 | |
| 40140675 | Spatial mapping of immune cell environments in NF2-related schwannomatosis vestibular schwannoma | Jones AP, Haley MJ, Meadows MH, Gregory GE, Hannan CJ, Simmons AK, Bere LD, Lewis DG, Oliveira P, Smith MJ, King AT, Evans DGR, Paszek P, Brough D, Pathmanaban ON, Couper KN. | Nat Commun. 2025 Mar 26;16(1):2944. doi: 10.1038/s41467-025-57586-z. | Jones AP | Nat Commun | 2025 | 01/01/1970 | 10.1038/s41467-025-57586-z | ||
| 40043708 | Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency | Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. | Am J Hum Genet. 2025 Feb 25:S0002-9297(25)00053-9. doi: 10.1016/j.ajhg.2025.02.005. Online ahead of print. | Thomas HB | Am J Hum Genet | 2025 | 03/05/2025 | 10.1016/j.ajhg.2025.02.005 | ||
| 39762600 | Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency | Walsh RB, McNaughton P, Nademi Z, Laberko A, Balashov D, Al-Mousa H, Arkwright PD, Wynn RF, Flood T, Williams E, Cant A, Abinun M, Hambleton S, Slatter M, Gennery AR, Lum SH, Owens S. | J Clin Immunol. 2025 Jan 6;45(1):65. doi: 10.1007/s10875-024-01850-2. | Walsh RB | J Clin Immunol | 2025 | 01/06/2025 | PMC11703983 | 10.1007/s10875-024-01850-2 | |
| 39701103 | Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype | Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. | Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. | Smith TB | Am J Hum Genet | 2025 | 01/01/1970 | PMC11739875 | 10.1016/j.ajhg.2024.11.007 | |
| 40123672 | Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation | Beaman GM, Jarvis BW, Goyal A, Keene DJB, Cervellione M, Lopes FM, Metcalfe KA, Woolf AS, Newman WG. | Front Pediatr. 2025 Mar 7;13:1534192. doi: 10.3389/fped.2025.1534192. eCollection 2025. | Beaman GM | Front Pediatr | 2025 | 01/01/1970 | PMC11925934 | 10.3389/fped.2025.1534192 | |
| 259804015 | Discovery of an inhibitor of DNA-driven inflammation that preferentially targets the AIM2 inflammasome. | Green J, El-Sharkawy L, Roth S, Zhu J, Cao J, Leach A et al. Discovery of an inhibitor of DNA-driven inflammation that preferentially targets the AIM2 inflammasome. iScience. 2024 May 19;26(5):106758. Epub 2024 Apr 27. doi: 10.1016/j.isci.2023.106758 | Published | 2024 | Contribution to journal - Article | 10.1016/j.isci.2023.106758 | ||||
| 295269467 | Exploring patient and clinician views of the risk and benefits of emerging therapies for the treatment of haemophilia: a qualitative study | Spoors J, Payne K, Wright S, Horsley W, Bell S, Cairns J. Exploring patient and clinician views of the risk and benefits of emerging therapies for the treatment of haemophilia: a qualitative study. The Journal of Haemophilia Practice. 2024 Apr 10;11(1). doi: 10.2478/jhp-2024-0006 | Published | 2024 | Contribution to journal - Article | 10.2478/jhp-2024-0006 | ||||
| 297407210 | Representation of published core outcome sets in practice guidelines | Rhodes S, Dodd S, Deckert S, Vasanthan L, Qiu R, Rohde JF et al. Representation of published core outcome sets in practice guidelines. Journal of Clinical Epidemiology. 2024 May 1;169:111311. Epub 2024 Feb 27. doi: 10.1016/j.jclinepi.2024.111311 | Published | 2024 | Contribution to journal - Article | 10.1016/j.jclinepi.2024.111311 | ||||
| 303584776 | Core outcome set developers should consider and specify the level of granularity of outcome domains | Kottner J, Beaton D, Clarke M, Dodd S, Kirkham J, Lange T et al. Core outcome set developers should consider and specify the level of granularity of outcome domains. Journal of Clinical Epidemiology. 2024 May 1;169:111307. Epub 2024 Feb 28. doi: 10.1016/j.jclinepi.2024.111307 | Published | 2024 | Contribution to journal - Commentary/debate | 10.1016/j.jclinepi.2024.111307 | ||||
| 321835353 | Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy | Ellison S, Buckland K, Learmonth Y, Day V, Kalra S, Howe L et al. Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy. Molecular Therapy - Methods & Clinical Development. 2024 Jun 1;32(2):101271. Epub 2024 May 20. doi: 10.1016/j.omtm.2024.101271 | Published | 2024 | Contribution to journal - Article | 10.1016/j.omtm.2024.101271 | ||||
| 324697857 | Agammaglobulinemia due to p.E555K TCF3 Dominant-Negative Variant | Utsumi T, Tsumura M, Yashiro M, Yamazaki M, Kato Z, Noma K et al. Agammaglobulinemia due to p.E555K TCF3 Dominant-Negative Variant. Journal of Clinical Immunology. 2024 Jun 21. | Accepted/In press | 2024 | Contribution to journal - Article | |||||
| 325934764 | Structural determination of oleanane-28,13β-olide and taraxerane-28,14β-olidefluorolactonisation products from the reaction of oleanolic acid with SelectfluorTM | Eadsforth M, Kong L, Whitehead G, Vitorica-Yrezabal IJ, O'Keefe R, Bryce R et al. Structural determination of oleanane-28,13β-olide and taraxerane-28,14β-olidefluorolactonisation products from the reaction of oleanolic acid with SelectfluorTM. Acta Crystallographica Section E. 2024 Jun 24. | Accepted/In press | 2024 | Contribution to journal - Article | |||||
| 328690420 | A review of clopidogrel resistance in lower extremity arterial disease | Burke K, Mcdermott J, Wright S, Newman W, Greaves N. A review of clopidogrel resistance in lower extremity arterial disease. JVS - Vascular Insights. 2024 Jul 13;2:100112. Epub 2024 Jun 11. doi: 10.1016/j.jvsvi.2024.100112 | Published | 2024 | Contribution to journal - Article | 10.1016/j.jvsvi.2024.100112 | ||||
| 337347260 | P156 Type I interferon is raised across connective tissue diseases and is associated with haematological abnormalities and specific autoantibody profiles | Madenidou AV, Rice G, Dyball S, Parker B, Briggs TA, Bruce IN. P156 Type I interferon is raised across connective tissue diseases and is associated with haematological abnormalities and specific autoantibody profiles. Rheumatology. 2024 Apr 24;63:keae163195. doi: 10.1093/rheumatology/keae163.195 | Published | 2024 | Contribution to journal - Meeting Abstract | 10.1093/rheumatology/keae163.195 | ||||
| 339076429 | Core outcome sets for trials of interventions to prevent and to treat multimorbidity in adults in low and middle-income countries: the COSMOS study | Vidyasagaran A, Ayesha R, Boehnke J, Kirkham J, Rose L, Hurst J et al. Core outcome sets for trials of interventions to prevent and to treat multimorbidity in adults in low and middle-income countries: the COSMOS study. BMJ Global Health. 2024 Aug 19;9(8):e015120. doi: 10.1136/bmjgh-2024-015120 | Published | 2024 | Contribution to journal - Article | 10.1136/bmjgh-2024-015120 | ||||
| 346246309 | An interconnected data infrastructure to support large-scale rare disease research | Solve-RD consortium, Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D et al. An interconnected data infrastructure to support large-scale rare disease research. GigaScience. 2024 Sept 20;13:giae058. Epub 2024 Sept 20. doi: 10.1093/gigascience/giae058 | E-pub ahead of print | 2024 | Contribution to journal - Article | 10.1093/gigascience/giae058 | ||||
| 346404143 | Very early onset IBD-associated IL-18opathy treated with an anti-IL-18 antibody 1 | Guha A, Diaz Pino R, Fagbemi A, Hughes SM, Wynn R, Lopez-Castejon G et al. Very early onset IBD-associated IL-18opathy treated with an anti-IL-18 antibody 1. Journal of Clinical Medicine. 2024 Oct 8. | Accepted/In press | 2024 | Contribution to journal - Article | |||||
| 349247637 | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | Solve-RD consortium. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genomic Medicine. 2024 Oct 26;9(1):49. 49. doi: 10.1038/s41525-024-00436-6 | Published | 2024 | Contribution to journal - Article | 10.1038/s41525-024-00436-6 | ||||
| 349720685 | Effects of non-invasive brain stimulation on effective connectivity during working memory task in Neurofibromatosis Type 1 patients | Litwińczuk MC, Garg S, Williams SR, Green J, Lea-Carnall C, Trujillo-Barreto NJ. Effects of non-invasive brain stimulation on effective connectivity during working memory task in Neurofibromatosis Type 1 patients. Cold Spring Harbor Laboratory Press. 2024 Oct 18. (bioRxiv). doi: 10.1101/2024.10.16.618671 | Published | 2024 | Preprint/Working paper - Preprint | 10.1101/2024.10.16.618671 | ||||
| 350429431 | Developing a caregiver reported questionnaire set for neurodevelopmental outcomes in school-aged children for pregnancy pharmacovigilance surveillance | Bluett-Duncan M, Bromley RL, Heslop E, Yates LM, Richardson JL. Developing a caregiver reported questionnaire set for neurodevelopmental outcomes in school-aged children for pregnancy pharmacovigilance surveillance: A contribution from the ConcePTION project. Neurotoxicology and Teratology. 2024 Aug 3;104:107359. doi: 10.1016/j.ntt.2024.107359 | Published | 2024 | Contribution to journal - Meeting Abstract | 10.1016/j.ntt.2024.107359 | ||||
| 350712722 | Inborn errors of immunity reveal the molecular requirements for the generation and maintenance of human Th9 cells. | Arkwright PD, al E. Inborn errors of immunity reveal the molecular requirements for the generation and maintenance of human Th9 cells. Journal of Allergy and Clinical Immunology. 2024 Nov 27. | Accepted/In press | 2024 | Contribution to journal - Article | |||||
| 350799190 | Regional nonsense constraint offers clinical and biological insights into rare genetic disorders | Blakes A, Whiffin N, Johnson C, Ellingford JM, Banka S. Regional nonsense constraint offers clinical and biological insights into rare genetic disorders. 2024. doi: 10.1101/2024.10.10.24315185 | Published | 2024 | Other contribution - Other contribution | 10.1101/2024.10.10.24315185 | ||||
| 356742549 | Interventions for improving the design and conduct of scientific research: A scoping review | Mott A, McDaid C, Kirkham J, Hewitt C, Strachan L, Fulbright H. Interventions for improving the design and conduct of scientific research: A scoping review. Research Methods in Medicine and Health Sciences. 2024 Jul 30;0(0):1-9. | Published | 2024 | Contribution to journal - Article | |||||
| 357099710 | Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons | Cuvertino S, Martirosian E, Cheng P, Garner T, Jackson A, Sharrocks AD et al. Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons. 2025. doi: 10.1101/2025.02.06.636815 | Published | 2025 | Other contribution - Other contribution | 10.1101/2025.02.06.636815 | ||||
| 359683420 | Analysis of R-loop forming regions identifies RNU2-2P and RNU5B-1 as neurodevelopmental disorder genes | Jackson A, Thaker N, Blakes A, Banka S. Analysis of R-loop forming regions identifies RNU2-2P and RNU5B-1 as neurodevelopmental disorder genes. medRxiv. 2024 Oct 6. doi: 10.1101/2024.10.04.24314692 | Published | 2024 | Preprint/Working paper - Preprint | 10.1101/2024.10.04.24314692 | ||||
| 360346073 | Blood Vessels Bioengineered from Induced Pluripotent Stem Cell Derived Mesenchymal Stem Cells and Functional Scaffolds | Larrea Murillo L, Chen Z, Song J, Mitchell A, Woods S, Kimber S et al. Blood Vessels Bioengineered from Induced Pluripotent Stem Cell Derived Mesenchymal Stem Cells and Functional Scaffolds. Cold Spring Harbor Laboratory Press. 2025 Mar 3. (bioRxiv). doi: 10.1101/2025.02.03.636368 | Published | 2025 | Preprint/Working paper - Preprint | 10.1101/2025.02.03.636368 | ||||
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