Detalhe da pesquisa
1.
ColocQuiaL: a QTL-GWAS colocalization pipeline.
Bioinformatics
; 38(18): 4409-4411, 2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35894642
2.
Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene.
Proc Natl Acad Sci U S A
; 116(46): 23232-23242, 2019 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31659023
3.
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
J Med Genet
; 53(3): 180-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26668131
4.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562225
5.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Hum Mutat
; 36(10): 931-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251998
6.
MED23-associated intellectual disability in a non-consanguineous family.
Am J Med Genet A
; 167(6): 1374-80, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845469
7.
High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR-Cas9 editing.
Nat Genet
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38811841
8.
Evaluating the Contribution of Cell Type-Specific Alternative Splicing to Variation in Lipid Levels.
Circ Genom Precis Med
; 16(3): 248-257, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165871
9.
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.
J Thromb Haemost
; 20(6): 1331-1349, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285134
10.
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Nat Commun
; 13(1): 3428, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701404
11.
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.
Nat Commun
; 13(1): 6914, 2022 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376295
12.
Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traits.
Alzheimers Res Ther
; 13(1): 34, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33541420
13.
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci.
Front Genet
; 12: 787545, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186008
14.
Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS.
Nat Commun
; 11(1): 4755, 2020 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32958772
15.
Publisher Correction: Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS.
Nat Commun
; 11(1): 5737, 2020 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159065
16.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 4: 62, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28603714
17.
Explorations to improve the completeness of exome sequencing.
BMC Med Genomics
; 9(1): 56, 2016 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27568008
18.
Next-generation diagnostics and disease-gene discovery with the Exomiser.
Nat Protoc
; 10(12): 2004-15, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562621
19.
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Orphanet J Rare Dis
; 10: 27, 2015 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25888122