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De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: vilain e. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.
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.
Mutant cohesin in premature ovarian failure.
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Caburet S, et al. Among authors: vilain e. N Engl J Med. 2014 Mar 6;370(10):943-949. doi: 10.1056/NEJMoa1309635. N Engl J Med. 2014. PMID: 24597867 Free PMC article.
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.
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.
241 results