Detalhe da pesquisa
1.
A deep catalogue of protein-coding variation in 983,578 individuals.
Nature
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38768635
2.
Common and rare variant associations with clonal haematopoiesis phenotypes.
Nature
; 612(7939): 301-309, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450978
3.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
; 599(7886): 628-634, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662886
4.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087929
5.
Germline Mutations in CIDEB and Protection against Liver Disease.
N Engl J Med
; 387(4): 332-344, 2022 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35939579
6.
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Nature
; 615(7950): E3, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807635
7.
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Genet Epidemiol
; 45(6): 664-681, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184762
8.
Patients With High Genome-Wide Polygenic Risk Scores for Coronary Artery Disease May Receive Greater Clinical Benefit From Alirocumab Treatment in the ODYSSEY OUTCOMES Trial.
Circulation
; 141(8): 624-636, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707832
9.
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Hum Mol Genet
; 28(4): 525-538, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304524
10.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
11.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727688
12.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29562163
13.
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
Hum Mol Genet
; 27(5): 901-911, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29325022
14.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
15.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
N Engl J Med
; 377(3): 211-221, 2017 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28538136
16.
A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
J Clin Immunol
; 39(4): 430-439, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079270
17.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
N Engl J Med
; 374(12): 1123-33, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933753
18.
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
J Hum Genet
; 64(6): 589-595, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903008
19.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature
; 498(7453): 220-3, 2013 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23665959
20.
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
J Med Genet
; 55(11): 779-784, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875123