Detalhe da pesquisa
1.
Genetic and chemotherapeutic influences on germline hypermutation.
Nature
; 605(7910): 503-508, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545669
2.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043637
3.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
4.
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Am J Hum Genet
; 108(6): 1083-1094, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022131
5.
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations.
Genome Res
; 29(7): 1047-1056, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227601
6.
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation.
Nat Genet
; 54(6): 817-826, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618845
7.
The contribution of X-linked coding variation to severe developmental disorders.
Nat Commun
; 12(1): 627, 2021 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504798
8.
Similarities and differences in patterns of germline mutation between mice and humans.
Nat Commun
; 10(1): 4053, 2019 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31492841
9.
Quantitative analysis of population-scale family trees with millions of relatives.
Science
; 360(6385): 171-175, 2018 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29496957
10.
Quantifying the contribution of recessive coding variation to developmental disorders.
Science
; 362(6419): 1161-1164, 2018 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409806