Detalhe da pesquisa
1.
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Proc Natl Acad Sci U S A
; 116(3): 950-959, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591557
2.
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.
Nat Genet
; 48(9): 1071-6, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27428751
3.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Nat Genet
; 47(5): 528-34, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25848753
4.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Science
; 338(6105): 394-7, 2012 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22956686