Detalhe da pesquisa
1.
Rare variant associations with plasma protein levels in the UK Biobank.
Nature
; 622(7982): 339-347, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794183
2.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 622(7984): 784-793, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37821707
3.
Plasma proteomic associations with genetics and health in the UK Biobank.
Nature
; 622(7982): 329-338, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794186
4.
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Nature
; 597(7877): 527-532, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375979
5.
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Am J Hum Genet
; 110(3): 487-498, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36809768
6.
A minimal role for synonymous variation in human disease.
Am J Hum Genet
; 109(12): 2105-2109, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36459978
7.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Blood
; 142(24): 2055-2068, 2023 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647632
8.
Rare-variant collapsing analyses for complex traits: guidelines and applications.
Nat Rev Genet
; 20(12): 747-759, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605095
9.
An expanded genomic database for identifying disease-related variants.
Nature
; 625(7993): 32-34, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057462
10.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 626(8001): E18, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332034
11.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
12.
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.
Am J Hum Genet
; 108(7): 1350-1355, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115965
13.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853563
14.
Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses.
Nucleic Acids Res
; 50(8): 4289-4301, 2022 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35474393
15.
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.
Am J Hum Genet
; 106(5): 659-678, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386536
16.
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis.
Am J Respir Crit Care Med
; 206(1): 56-69, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35417304
17.
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.
Genes Chromosomes Cancer
; 61(9): 523-529, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394676
18.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
19.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet
; 104(3): 530-541, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
20.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808