Ellard S - Search Results

1

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Õunap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH. Janssen BDE, et al. Among authors: ellard s. Hum Mutat. 2022 Dec;43(12):1844-1851. doi: 10.1002/humu.24444. Epub 2022 Aug 10. Hum Mutat. 2022. PMID: 35904126 Free PMC article.

2

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S, Colclough K. Ellard S, et al. Hum Mutat. 2006 Sep;27(9):854-69. doi: 10.1002/humu.20357. Hum Mutat. 2006. PMID: 16917892

3

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C. Edghill EL, et al. Among authors: ellard s. Nephrol Dial Transplant. 2008 Feb;23(2):627-35. doi: 10.1093/ndt/gfm603. Epub 2007 Oct 30. Nephrol Dial Transplant. 2008. PMID: 17971380

4

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. Mackay DJ, et al. Among authors: ellard s. Nat Genet. 2008 Aug;40(8):949-51. doi: 10.1038/ng.187. Epub 2008 Jul 11. Nat Genet. 2008. PMID: 18622393

5

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Guegan K, Stals K, Day M, Turnpenny P, Ellard S. Guegan K, et al. Among authors: ellard s. Clin Genet. 2012 Jul;82(1):33-40. doi: 10.1111/j.1399-0004.2011.01749.x. Epub 2011 Jul 31. Clin Genet. 2012. PMID: 21752016

6

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S. Weedon MN, et al. Among authors: ellard s. Am J Hum Genet. 2011 Aug 12;89(2):308-12. doi: 10.1016/j.ajhg.2011.07.002. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820100 Free PMC article.

7

HNF1B deletions in patients with young-onset diabetes but no known renal disease.

Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S. Edghill EL, et al. Among authors: ellard s. Diabet Med. 2013 Jan;30(1):114-7. doi: 10.1111/j.1464-5491.2012.03709.x. Diabet Med. 2013. PMID: 22587559

8

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Colclough K, et al. Among authors: ellard s. Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23348805

9

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H. Ellard S, et al. Eur J Hum Genet. 2015 Mar;23(3):401-4. doi: 10.1038/ejhg.2014.120. Epub 2014 Jun 25. Eur J Hum Genet. 2015. PMID: 24961629 Free PMC article.

10

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.

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