Detalhe da pesquisa
1.
Toward a fine-scale population health monitoring system.
Cell
; 184(8): 2068-2083.e11, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861964
2.
Personalized Medicine and the Power of Electronic Health Records.
Cell
; 177(1): 58-69, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901549
3.
Disease Heritability Inferred from Familial Relationships Reported in Medical Records.
Cell
; 173(7): 1692-1704.e11, 2018 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779949
4.
Principles and methods for transferring polygenic risk scores across global populations.
Nat Rev Genet
; 25(1): 8-25, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37620596
5.
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Nature
; 616(7958): 755-763, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046083
6.
The Human Pangenome Project: a global resource to map genomic diversity.
Nature
; 604(7906): 437-446, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35444317
7.
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References.
Annu Rev Genomics Hum Genet
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38663087
8.
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Am J Hum Genet
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38688278
9.
Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics.
Am J Hum Genet
; 110(11): 1853-1862, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875120
10.
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Am J Hum Genet
; 110(12): 2029-2041, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38006881
11.
A brief history of human disease genetics.
Nature
; 577(7789): 179-189, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915397
12.
A positively selected FBN1 missense variant reduces height in Peruvian individuals.
Nature
; 582(7811): 234-239, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499652
13.
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing.
Am J Hum Genet
; 109(9): 1653-1666, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981533
14.
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.
Am J Hum Genet
; 109(6): 1175-1181, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35504290
15.
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits.
Am J Hum Genet
; 109(4): 669-679, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35263625
16.
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans.
Am J Hum Genet
; 108(11): 2099-2111, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678161
17.
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.
Genet Med
; 26(1): 101011, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897232
18.
Genomic Disorders in CKD across the Lifespan.
J Am Soc Nephrol
; 34(4): 607-618, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36302597
19.
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.
Hum Genet
; 142(10): 1477-1489, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658231
20.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108757