Detalhe da pesquisa
1.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Nature
; 607(7917): 97-103, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35255492
2.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
3.
Subtyping Severe Hypercholesterolemia by Genetic Determinant to Stratify Risk of Coronary Artery Disease.
Arterioscler Thromb Vasc Biol
; 43(10): 2058-2067, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589137
4.
Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.
JAMA
; 329(3): 235-243, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648468
5.
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.
Genet Med
; 24(3): 703-711, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906480
6.
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.
Genet Med
; 24(9): 1857-1866, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639097
7.
Unravelling the human genome-phenome relationship using phenome-wide association studies.
Nat Rev Genet
; 17(3): 129-45, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26875678
8.
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Am J Med Genet C Semin Med Genet
; 187(1): 83-94, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576083
9.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528536
10.
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
J Med Genet
; 56(7): 427-433, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30803986
11.
Analysis of the canid Y-chromosome phylogeny using short-read sequencing data reveals the presence of distinct haplogroups among Neolithic European dogs.
BMC Genomics
; 19(1): 350, 2018 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29747566
12.
Response to van Riel et al.
Genet Med
; 25(1): 161-163, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609148
13.
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
Lancet
; 382(9894): 790-6, 2013 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-23755828
14.
An evolutionary genomic approach to identify genes involved in human birth timing.
PLoS Genet
; 7(4): e1001365, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533219
15.
Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in multiple racial/ethnic populations: the PAGE study.
Am J Epidemiol
; 178(5): 780-90, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820787
16.
Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.
Am J Psychiatry
; 180(1): 65-72, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36475376
17.
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.
J Am Heart Assoc
; 12(13): e030073, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37382153
18.
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Nat Genet
; 54(3): 240-250, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177841
19.
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.
J Pers Med
; 11(5)2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34062946
20.
Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.
Circ Genom Precis Med
; 14(1): e003120, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33480803