Detalhe da pesquisa
1.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363768
2.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166479
3.
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 381-389, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332277
4.
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
Genet Med
; 18(8): 788-95, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26656649
5.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
medRxiv
; 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38496498
6.
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.
Birth Defects Res
; 109(16): 1257-1267, 2017 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748635