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Page 1
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. Hamilton AJ, et al. Among authors: ellard s. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285859 Free PMC article.
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CL, Weedon MN, Ellard S. Lango Allen H, et al. Among authors: ellard s. J Med Genet. 2014 Apr;51(4):264-7. doi: 10.1136/jmedgenet-2013-102142. Epub 2014 Jan 23. J Med Genet. 2014. PMID: 24459211 Free PMC article.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S. Stals KL, et al. Among authors: ellard s. Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3. Prenat Diagn. 2018. PMID: 29096039 Free PMC article.
Risk category system to identify pituitary adenoma patients with AIP mutations.
Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium. Caimari F, et al. Among authors: ellard s. J Med Genet. 2018 Apr;55(4):254-260. doi: 10.1136/jmedgenet-2017-104957. Epub 2018 Feb 10. J Med Genet. 2018. PMID: 29440248 Free PMC article.
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF. Low KJ, et al. Among authors: ellard s. Eur J Hum Genet. 2018 Jun;26(6):796-807. doi: 10.1038/s41431-018-0110-x. Epub 2018 Mar 6. Eur J Hum Genet. 2018. PMID: 29511323 Free PMC article.
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I. Low KJ, et al. Among authors: ellard s. Eur J Med Genet. 2019 Feb;62(2):97-102. doi: 10.1016/j.ejmg.2018.06.009. Epub 2018 Jun 12. Eur J Med Genet. 2019. PMID: 29902590 No abstract available.
680 results