J. Reid

发表

Common and rare variant associations with clonal haematopoiesis phenotypes

J. Marchini, G. Abecasis, H. Kang, 2022, Nature.

Comprehensive molecular characterization of clear cell renal cell carcinoma

Steven J. M. Jones, Benjamin J. Raphael, Evan O. Paull, 2013, Nature.

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Nature Communications.

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

Alexander E. Lopez, David P. vanMaanen, K. Lunetta, 2022, Nature Genetics.

Sequence Variation in TMEM18 in Association with Body Mass Index: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study

R. Gibbs, E. Boerwinkle, D. Muzny, 2014 .

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

Johnathon R. Walls, Mary E. Haas, R. Collins, 2022, Nature Communications.

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

Simon White, Donna M. Muzny, Narayanan Veeraraghavan, 2014, BMC Bioinformatics.

Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes

Alexander E. Lopez, Andrew L Blumenfeld, M. McCarthy, 2021, Nature Genetics.

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

Alexander E. Lopez, Yan V. Sun, Andrew L Blumenfeld, 2020, Nature Genetics.

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease

Alexander E. Lopez, Eurie L. Hong, G. D. Gatta, 2022, Nature Genetics.

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Alexander E. Lopez, Andrew L Blumenfeld, J. Marchini, 2020, Nature.

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis

Alexander E. Lopez, Grant D. Huang, Yan V. Sun, 2020, Nature Genetics.

Comprehensive molecular characterization of clear cell renal cell carcinoma

Steven J. M. Jones, Eric S. Lander, Benjamin J. Raphael, 2013, Nature.

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

A. Griffiths, N. Warner, O. Gottesman, 2021, Scientific Reports.

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

A. Griffiths, N. Warner, O. Gottesman, 2017, Scientific Reports.

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Shashikant Kulkarni, Pavel Skums, David S. Campo, 2015, Nature Biotechnology.

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

Tanya M. Teslovich, D. Ledbetter, S. McCarthy, 2017, The New England journal of medicine.

High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease

Alexander E. Lopez, Manuel A. Rivas, Manuel A Rivas, 2022, Nature Genetics.

An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs

Alexander E. Lopez, Aaron M. King, Andrew L Blumenfeld, 2021, Journal of hepatology.

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Andrew L Blumenfeld, G. Abecasis, H. Kang, 2020, Nature Communications.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

Spiros C. Denaxas, Alexander E. Lopez, Andrew L Blumenfeld, 2020, Nature Communications.

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

Alexander E. Lopez, Tanya M. Teslovich, Gaurang C. Patel, 2022, Communications Biology.

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

Adam C. English, William J. Salerno, Jeffrey G. Reid, 2014, BMC Bioinformatics.

A deep catalog of protein-coding variation in 985,830 individuals

Alexander E. Lopez, R. Collins, G. Abecasis, 2023, bioRxiv.

Common genetic variants identify targets for COVID-19 and individuals at 1 high risk of severe disease 2

A. Girshick, D. Rader, C. O'Dushlaine, 2021 .

Corrigendum to ‘An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs’ [J Hepatol 2021;75(3):572–581]

Alexander E. Lopez, Aaron M. King, Andrew L Blumenfeld, 2021, Journal of hepatology.

Complete Khoisan and Bantu genomes from southern Africa

Tom H. Pringle, Robert S. Harris, E. Eichler, 2010, Nature.

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.

Alexander E. Lopez, D. Ledbetter, F. Dewey, 2016, The New England journal of medicine.

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis

G. Abecasis, C. Greenwood, J. Richards, 2023, Nature Genetics.

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

Alexander E. Lopez, Tanya M. Teslovich, D. Ledbetter, 2017, bioRxiv.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

K. Kaestner, Jinbo Chen, S. Lemaire, 2021, Nature Medicine.

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults

W. Chung, Yufeng Shen, F. Dewey, 2018, Circulation. Genomic and precision medicine.

Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Matthew S. Lebo, Daniel R. Lavage, Dustin N. Hartzel, 2018, JAMA network open.

Yield of genetic association signals from genomes, exomes, and imputation in the UK biobank

G. Abecasis, S. Balasubramanian, W. Salerno, 2023, medRxiv.

A catalog of associations between rare coding variants and COVID-19 outcomes

Alexander Hanbo Li, J. Marchini, G. Abecasis, 2020, medRxiv.

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Sri V. V. Deevi, J. Szustakowski, S. Balasubramanian, 2021, Nature Genetics.

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Marylyn D. Ritchie, Alan R. Shuldiner, Jeffrey Staples, 2017, bioRxiv.

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

O. Gottesman, A. Shuldiner, H. Kirchner, 2019, Diabetes.

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Tom R. Gaunt, Alexander E. Lopez, Laurent F. Thomas, 2021, Cell.

A deep catalog of protein-coding variation in 985,830 individuals

Alexander E. Lopez, R. Collins, G. Abecasis, 2023, bioRxiv.

UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab

Alexander E. Lopez, G. Abecasis, N. Ternès, 2017, The Pharmacogenomics Journal.

Genotyping, sequencing and analysis of 140,000 adults from Mexico City

R. Collins, S. Balasubramanian, A. Hawes, 2023, Nature.