Detalhe da pesquisa
1.
Frequency and Complexity of De Novo Structural Mutation in Autism.
Am J Hum Genet;
98(4): 667-79, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27018473
2.
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.
Res Sq;
2023 Dec 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38234766
3.
A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Nat Genet;
54(9): 1284-1292, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35654974
4.
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Nat Med;
26(1): 143-150, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31873310
5.
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.
Cell Rep;
28(13): 3320-3328.e4, 2019 09 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31553903
6.
Paternally inherited cis-regulatory structural variants are associated with autism.
Science;
360(6386): 327-331, 2018 04 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29674594
7.
Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Nat Genet;
54(8): 1259, 2022 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35768728