A. Hawes

发表

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Joshua M. Korn, Christopher A. Miller, Derek Y. Chiang, 2008, Nature.

Somatic mutations affect key pathways in lung adenocarcinoma

Brian H. Dunford-Shore, T. Fennell, K. Cibulskis, 2008, Nature.

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Lisa M. D'Souza, Colin N. Dewey, Martin S. Taylor, 2004, Nature.

Integrated Genomic Analyses of Ovarian Carcinoma

Benjamin J. Raphael, James M. Eldred, Joshua M. Stuart, 2011, Nature.

Integrating common and rare genetic variation in diverse human populations

Sharon R Grossman, Pardis C Sabeti, P. Deloukas, 2010, Nature.

Deep resequencing reveals excess rare recent variants consistent with explosive population growth

Taylor J. Maxwell, R. Gibbs, E. Boerwinkle, 2010, Nature communications.

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, Neuron.

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

David N. Messina, Ryan D. Hernandez, Jeffery P. Demuth, 2007, Science.

Paradoxical DNA Repair and Peroxide Resistance Gene Conservation in Bacillus pumilus SAFR-032

G. Weinstock, D. Muzny, L. Nazareth, 2007, PloS one.

The DNA sequence of the human X chromosome

David L. Steffen, R. Durbin, A. Coulson, 2005, Nature.

Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.

Steven J. M. Jones, Benjamin J. Raphael, Mark D. M. Leiserson, 2016, The New England journal of medicine.

Molecular findings among patients referred for clinical whole-exome sequencing.

Magalie S Leduc, Ankita Patel, J. Lupski, 2014, JAMA.

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

J. Lupski, R. Gibbs, D. Muzny, 2013, Genome Medicine.

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.

Rhesus Macaque Genome Sequencing and Analysis Rhesus Macaque Genome Evolutionary and Biomedical Insights from the

Christian J. Buhay, Granger G. Sutton, Yan Ding, 2010 .

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.

Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus

G. Weinstock, D. Muzny, L. Nazareth, 2007, BMC Microbiology.

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

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

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

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

Deep resequencing and association analysis of schizophrenia candidate genes

J. Lieberman, P. Sullivan, R. Gibbs, 2013, Molecular Psychiatry.

Complete Genome Sequence of Rickettsia typhi and Comparison with Sequences of Other Rickettsiae

Guangwei Fan, George E. Fox, Richard A. Gibbs, 2004, Journal of bacteriology.

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma

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

Suptavumab for the Prevention of Medically Attended Respiratory Syncytial Virus Infection in Preterm Infants

A. Hawes, G. Yancopoulos, Elzbieta Wloga, 2020, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

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.

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.

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

R. Collins, J. Marchini, G. Abecasis, 2021, Science.

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.

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.

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.

The DNA sequence, annotation and analysis of human chromosome 3

Wei Huang, Hans Lehrach, Paul Havlak, 2006, Nature.

Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children.

R. Gibbs, D. Muzny, A. Hawes, 2011, Physiological genomics.

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

R. Gibbs, H. Zoghbi, E. Boerwinkle, 2011, Human molecular genetics.

Functional Analysis of Sequence Variation Resequencing of IRS 2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children

R. Gibbs, D. Muzny, A. Hawes, 2011 .

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, PLoS genetics.

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

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

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.

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

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

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

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

The finished DNA sequence of human chromosome 12

Paul Havlak, Christian J. Buhay, Donna M. Muzny, 2006, Nature.

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes

Alexander E. Lopez, Dustin N. Hartzel, Andrew L Blumenfeld, 2021, Scientific Reports.

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Ankita Patel, J. Lupski, R. Gibbs, 2015 .

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

Alexander E. Lopez, Jason A. Grundstad, Sri V. V. Deevi, 2020, medRxiv.

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.

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.

Thrombotic Risk Determined by STAB 2 Variants in a Population-Based Cohort Study.

Alexander E. Lopez, Andrew L Blumenfeld, G. Abecasis, 2021, Circulation. Genomic and precision medicine.

Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals

Alexander E. Lopez, Andrew L Blumenfeld, G. Abecasis, 2020, Biological Psychiatry.

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.

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.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.

Benjamin J Raphael, Benjamin J. Raphael, Richard A. Moore, 2016, Cancer cell.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.

Benjamin J Raphael, Benjamin J. Raphael, Richard A. Moore, 2016, Cancer cell.

Integrating common and rare genetic variation in diverse human populations

Joshua M. Korn, Pardis C Sabeti, P. Deloukas, 2010, Nature.

Somatic mutations affect key pathways in lung adenocarcinoma

Brian H. Dunford-Shore, T. Fennell, K. Cibulskis, 2008, Nature.

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.

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

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

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.

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

David N. Messina, Matthew W. Hahn, Miriam K. Konkel, 2007 .

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

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