Detalhe da pesquisa
1.
Somatic genomic changes in single Alzheimer's disease neurons.
Nature
; 604(7907): 714-722, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444284
2.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
3.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
JAMA Neurol
; 80(9): 980-988, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486637
4.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv
; 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873196
5.
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements.
Nat Genet
; 54(10): 1564-1571, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36163278