Search details
1.
A deep catalogue of protein-coding variation in 983,578 individuals.
Nature
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38768635
2.
Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 622(7984): 784-793, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37821707
3.
Common and rare variant associations with clonal haematopoiesis phenotypes.
Nature
; 612(7939): 301-309, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36450978
4.
Exome sequencing and analysis of 454,787 UK Biobank participants.
Nature
; 599(7886): 628-634, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34662886
5.
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
; 586(7831): 749-756, 2020 10.
Article
in English
| MEDLINE | ID: mdl-33087929
6.
Germline Mutations in CIDEB and Protection against Liver Disease.
N Engl J Med
; 387(4): 332-344, 2022 07 28.
Article
in English
| MEDLINE | ID: mdl-35939579
7.
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City.
Nature
; 626(8001): E18, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38332034
8.
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.
Nature
; 615(7950): E3, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36807635
9.
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.
Article
in English
| MEDLINE | ID: mdl-34184762
10.
Sparse Project VCF: efficient encoding of population genotype matrices.
Bioinformatics
; 36(22-23): 5537-5538, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33300997
11.
UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.
Pharmacogenomics J
; 22(3): 160-165, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35149777
12.
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.
Genet Med
; 24(3): 703-711, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906480
13.
Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population.
J Card Fail
; 28(3): 403-414, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34634447
14.
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.
J Am Soc Nephrol
; 32(3): 756-765, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33542107
15.
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.
Article
in English
| MEDLINE | ID: mdl-30304524
16.
Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.
Am J Hum Genet
; 102(5): 874-889, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29727688
17.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
N Engl J Med
; 378(12): 1096-1106, 2018 03 22.
Article
in English
| MEDLINE | ID: mdl-29562163
18.
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.
Article
in English
| MEDLINE | ID: mdl-29325022
19.
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.
N Engl J Med
; 377(3): 211-221, 2017 07 20.
Article
in English
| MEDLINE | ID: mdl-28538136
20.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
N Engl J Med
; 374(12): 1123-33, 2016 Mar 24.
Article
in English
| MEDLINE | ID: mdl-26933753