A. Marcketta

发表

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Marylyn D. Ritchie, Scott Mellis, Alan R. Shuldiner, 2016, Science.

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Tanya M. Teslovich, Anne W. Ndungu, Anthony J. Payne, 2019, Nature.

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

Tanya M. Teslovich, Anne W. Ndungu, Anthony J. Payne, 2018, bioRxiv.

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.

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

Tanya M. Teslovich, Ellen M. Schmidt, G. Abecasis, 2018, American journal of human genetics.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

J. Marchini, S. McCarthy, M. Cantor, 2020, medRxiv.

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Maria Cerezo, Paul Flicek, Yaniv Erlich, 2016, Nature Genetics.

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

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

Exome sequencing and analysis of 454,787 UK Biobank participants

J. Marchini, G. Abecasis, H. Kang, 2021, Nature.

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

Alexander E. Lopez, Alexander Hanbo Li, Andrew L Blumenfeld, 2020, Nature.

Mosaic chromosomal aneuploidy detection by sequencing (MAD-seq)

Kenny Q. Ye, A. Auton, J. Greally, 2017, bioRxiv.

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.

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Gonçalo Abecasis, Alan R. Shuldiner, Jeffrey Staples, 2019, bioRxiv.

Exome-wide association studies in general and long-lived populations identify genetic variants related to human age

Alexander Hanbo Li, D. Ledbetter, D. Rader, 2020, bioRxiv.

Computationally efficient whole-genome regression for quantitative and binary traits

Gonçalo Abecasis, Leland Barnard, Jonathan Marchini, 2020, Nature Genetics.

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

Alexander E. Lopez, David L. Birtwell, Tanya M. Teslovich, 2018, Nature Communications.

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.

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

J. Marchini, G. Abecasis, H. Kang, 2021, The American Journal of Human Genetics.

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

Alexander Hanbo Li, J. Marchini, J. Szustakowski, 2020, medRxiv : the preprint server for health sciences.

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

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

Joint testing of rare variant burden scores using non-negative least squares

G. Abecasis, J. Kosmicki, A. Locke, 2023, bioRxiv.

Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq

Kenny Q. Ye, A. Auton, J. Greally, 2018, Genome research.

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.

Genome‐wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals

G. Abecasis, S. McCarthy, Chuan Gao, 2021, Genetic epidemiology.

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

A. Shuldiner, L. Mitnaul, A. Locke, 2021, medRxiv.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

Alexander Hanbo Li, J. Marchini, S. Balasubramanian, 2020, medRxiv.

Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records

A. Shuldiner, C. V. Van Hout, Chuan Gao, 2021, HGG advances.

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 .

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.

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, J. Szustakowski, 2020, medRxiv : the preprint server for health sciences.

Genome-wide analysis in 756,646 individuals provides first genetic evidence 1 that ACE2 expression influences COVID-19 risk and yields genetic risk scores 2 predictive of severe disease 3

G. Sirugo, A. Girshick, L. Habegger, 2021 .

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

G. Sirugo, A. Girshick, L. Habegger, 2021 .

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

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

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

Alexander E. Lopez, Andrew L Blumenfeld, J. Cook, 2020, Nature Communications.

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

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

Genetic risk factors for COVID-19 and influenza are largely distinct.

Eurie L. Hong, A. Girshick, L. Habegger, 2024, Nature genetics.

Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records

J. Staples, A. Marcketta, B. Ye, 2020, medRxiv.