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Author Details

Eimear E Kenny
Icahn School of Medicine at Mount Sinai, NY Institute for Genomic Health
2003
129
38
PMIDPaper TitleJournal TitlePublished Year
37745486Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.medRxiv2024
37745486Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.medRxiv2024
37897232Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.Genet Med2024
37620596Principles and methods for transferring polygenic risk scores across global populations.Nat Rev Genet2024
37620596Principles and methods for transferring polygenic risk scores across global populations.Nat Rev Genet2024
37897232Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.Genet Med2024
36350676FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic Acids Res2023
36302597Genomic Disorders in CKD across the Lifespan.J Am Soc Nephrol2023
36350676FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic Acids Res2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
37755714An Ethical Framework for Research Using Genetic Ancestry.Perspect Biol Med2023
37600667Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35.Front Genet2023
37658231Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.Hum Genet2023
38006881The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.Am J Hum Genet2023
37875120Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics.Am J Hum Genet2023
37158195Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.Genet Med2023
37090648MUSSEL: Enhanced Bayesian Polygenic Risk Prediction Leveraging Information across Multiple Ancestry Groups.bioRxiv2023
37337107Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.Nat Genet2023
36711854Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv2023
37464048Disease risk and healthcare utilization among ancestrally diverse groups in the Los Angeles region.Nat Med2023
37334874Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Clin Genet2023
37461450The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.medRxiv2023
36949526The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.Pilot Feasibility Stud2023
37131817Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics.bioRxiv2023
36563179Detection of mosaic variants using genome sequencing in a large pediatric cohort.Am J Med Genet A2023
37126548The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.Sci Adv2023
36941441Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals.Nat Genet2023
36549199Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.Mol Genet Metab2023
37120605Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nat Commun2023
36621880Returning integrated genomic risk and clinical recommendations: The eMERGE study.Genet Med2023
36610497Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.Clin Gastroenterol Hepatol2023
36993157Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.medRxiv2023
36540975Session Introduction: Overcoming health disparities in precision medicine.Pac Symp Biocomput2023
36540970Selecting Clustering Algorithms for Identity-By-Descent Mapping.Pac Symp Biocomput2023
37046083Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.Nature2023
37227088TOPORS as a novel causal gene for Joubert syndrome.Am J Med Genet A2023
37161864Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genet Med2023
37034679Admixture Mapping of Peripheral Artery Disease in a Dominican Population Reveals a Novel Risk Locus on 2q35.medRxiv2023
37755714An Ethical Framework for Research Using Genetic Ancestry.Perspect Biol Med2023
38006881The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.Am J Hum Genet2023
37658231Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.Hum Genet2023
37875120Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics.Am J Hum Genet2023
38036523Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.Nat Commun2023
37600667Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35.Front Genet2023
37461450The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.medRxiv2023
37126548The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.Sci Adv2023
37090648MUSSEL: Enhanced Bayesian Polygenic Risk Prediction Leveraging Information across Multiple Ancestry Groups.bioRxiv2023
37158195Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.Genet Med2023
37120605Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nat Commun2023
36993157Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.medRxiv2023
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Collaborators

Noura S Abul-Husn
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai
Co-authored papers 30
Ruth J F Loos
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Sabrina A Suckiel
Icahn School of Medicine at Mount Sinai
Co-authored papers 19
Carlos D Bustamante
Stanford University
Co-authored papers 18
Kari E North
Co-authored papers 16
Charles Kooperberg
Co-authored papers 16
Carol R Horowitz
Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai
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Bruce D Gelb
Icahn School of Medicine at Mount Sinai
Co-authored papers 13
Girish N Nadkarni
Icahn School of Medicine at Mount Sinai
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Erwin P Bottinger
Hasso Plattner Institute for Digital Health at Mount Sinai
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John M Greally
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Myriam Fornage
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Eric Boerwinkle
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Mariaelisa Graff
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Judy H Cho
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Christopher A Haiman
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Ulrike Peters
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Krzysztof Kiryluk
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Kathleen C Barnes
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Itsik Pe'er
Columbia University
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Lucia A Hindorff
National Human Genome Research Institute, National Institutes of Health
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Steven Buyske
The State University of New Jersey
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Gon??alo R Abecasis
Regeneron Pharmaceuticals Inc.
Co-authored papers 8
Mark J Daly
Massachusetts General Hospital
Co-authored papers 8
Janina M Jeff
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai
Co-authored papers 8
Stephen S Rich
Co-authored papers 8
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 7
Yii-Der Ida Chen
Co-authored papers 7
Ron Do
Co-authored papers 7
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 7
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