Vilain E - Search Results

1

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. Strom SP, et al. Among authors: vilain e. Genet Med. 2014 Jul;16(7):510-5. doi: 10.1038/gim.2013.183. Epub 2014 Jan 9. Genet Med. 2014. PMID: 24406459 Free PMC article.

2

Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. Nikolova G, et al. Among authors: vilain e. Hum Genet. 2007 Feb;120(6):847-56. doi: 10.1007/s00439-006-0267-1. Epub 2006 Oct 5. Hum Genet. 2007. PMID: 17021862

3

We used to call them hermaphrodites.

Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. Vilain E, et al. Genet Med. 2007 Feb;9(2):65-6. doi: 10.1097/gim.0b013e31802cffcf. Genet Med. 2007. PMID: 17304046 Free article. No abstract available.

4

The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice.

Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. Nikolova G, et al. Among authors: vilain e. Genetics. 2008 May;179(1):419-27. doi: 10.1534/genetics.108.088088. Epub 2008 May 5. Genetics. 2008. PMID: 18458101 Free PMC article.

5

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.

Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Arboleda VA, et al. Among authors: vilain e. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275. Nat Genet. 2012. PMID: 22634751 Free PMC article.

6

Regulation of sex determination in mice by a non-coding genomic region.

Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Arboleda VA, et al. Among authors: vilain e. Genetics. 2014 Jul;197(3):885-97. doi: 10.1534/genetics.113.160259. Epub 2014 May 2. Genetics. 2014. PMID: 24793290 Free PMC article.

7

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F. Strom SP, et al. Among authors: vilain e. BMC Med Genet. 2014 May 1;15:49. doi: 10.1186/1471-2350-15-49. BMC Med Genet. 2014. PMID: 24886118 Free PMC article.

8

Interpreting whole-genome sequencing.

Grody WW, Vilain E, Nelson SF. Grody WW, et al. Among authors: vilain e. JAMA. 2014 Jul 16;312(3):296. doi: 10.1001/jama.2014.6602. JAMA. 2014. PMID: 25027151 No abstract available.

9

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Fogel BL, et al. Among authors: vilain e. JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. JAMA Neurol. 2014. PMID: 25133958 Free PMC article.

10

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: vilain e. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.

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