Detalhe da pesquisa
1.
A structural variation reference for medical and population genetics.
Nature
; 581(7809): 444-451, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461652
2.
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 581(7809): 434-443, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461654
3.
Mitochondrial DNA variation across 56,434 individuals in gnomAD.
Genome Res
; 32(3): 569-582, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074858
4.
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 597(7874): E3-E4, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373650
5.
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature
; 590(7846): E53, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536625
6.
Author Correction: A structural variation reference for medical and population genetics.
Nature
; 590(7846): E55, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536627
7.
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Genet Med
; 22(9): 1478-1488, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32528171
8.
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome.
J Am Soc Nephrol
; 30(12): 2338-2353, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732614
9.
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol
; 29(8): 2123-2138, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959197
10.
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
Am J Med Genet A
; 176(11): 2460-2465, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079490
11.
A transcriptome screen for positive selection in domesticated breadfruit and its wild relatives (Artocarpus spp.).
Am J Bot
; 105(5): 915-926, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29882953
12.
The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
bioRxiv
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645134
13.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nat Genet
; 56(3): 395-407, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38429495
14.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234731
15.
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.
Sci Rep
; 11(1): 18274, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521872
16.
Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report.
Mol Syndromol
; 8(5): 272-277, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878612
17.
Chloroplast microsatellite markers for Artocarpus (Moraceae) developed from transcriptome sequences.
Appl Plant Sci
; 3(9)2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26421253