Detalhe da pesquisa
1.
Post-translational control of beige fat biogenesis by PRDM16 stabilization.
Nature
; 609(7925): 151-158, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35978186
2.
An integrative framework to prioritize genes in more than 500 loci associated with body mass index.
Am J Hum Genet
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38754426
3.
Hepatic NADH reductive stress underlies common variation in metabolic traits.
Nature
; 583(7814): 122-126, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461692
4.
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
5.
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
J Med Genet
; 59(12): 1171-1178, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803701
6.
Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.
Diabetologia
; 65(9): 1495-1509, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35763030
7.
Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.
Hum Mol Genet
; 29(15): 2625-2636, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32484228
8.
Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms.
Am J Hum Genet
; 104(6): 1025-1039, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056107
9.
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
Hum Mol Genet
; 28(1): 166-174, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239722
10.
Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.
Am J Hum Genet
; 103(4): 522-534, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269813
11.
Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.
Blood Cells Mol Dis
; 86: 102504, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949984
12.
Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency.
J Pediatr
; 236: 238-245, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33901521
13.
A Conversation with Kurt and Rochelle Hirschhorn.
Annu Rev Genomics Hum Genet
; 18: 31-44, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28142260
14.
Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome.
Int J Obes (Lond)
; 44(7): 1596-1606, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467615
15.
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Genet Med
; 22(2): 371-380, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481752
16.
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Genet Med
; 22(2): 449, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772351
17.
PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.
PLoS Comput Biol
; 15(1): e1006734, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640898
18.
Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.
Proc Natl Acad Sci U S A
; 114(3): E327-E336, 2017 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28031487
19.
The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies.
Am J Epidemiol
; 188(6): 991-1012, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155658
20.
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.
Am J Hum Genet
; 99(3): 527-539, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545677