Detalhe da pesquisa
1.
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Cell
; 186(21): 4514-4527.e14, 2023 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37757828
2.
The genomic history of the Middle East.
Cell
; 184(18): 4612-4625.e14, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34352227
3.
Reduced reproductive success is associated with selective constraint on human genes.
Nature
; 603(7903): 858-863, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322230
4.
The power of genetic diversity in genome-wide association studies of lipids.
Nature
; 600(7890): 675-679, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34887591
5.
Discovering genes that affect cognitive ability.
Trends Genet
; 39(11): 810-812, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596117
6.
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
7.
Evaluating drug targets through human loss-of-function genetic variation.
Nature
; 581(7809): 459-464, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461653
8.
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
9.
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Am J Hum Genet
; 109(8): 1366-1387, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931049
10.
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Am J Hum Genet
; 108(11): 2186-2194, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626536
11.
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Nature
; 562(7726): 268-271, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30258228
12.
Author Correction: The power of genetic diversity in genome-wide association studies of lipids.
Nature
; 618(7965): E19-E20, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237109
13.
Integrating polygenic risk scores in the prediction of type 2 diabetes risk and subtypes in British Pakistanis and Bangladeshis: A population-based cohort study.
PLoS Med
; 19(5): e1003981, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587468
14.
Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
Nature
; 590(7846): E56, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33536628
15.
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
Hum Mol Genet
; 28(20): 3391-3405, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363758
16.
Nature via Nurture, the Martin Way.
Twin Res Hum Genet
; 23(2): 137-138, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32482185
17.
Insights into Platypus Population Structure and History from Whole-Genome Sequencing.
Mol Biol Evol
; 35(5): 1238-1252, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688544
18.
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
Hum Mol Genet
; 26(20): 3869-3882, 2017 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29016847
19.
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.
Am J Hum Genet
; 98(5): 898-908, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132594
20.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Am J Hum Genet
; 98(5): 830-842, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27087319