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Author Details

Stephen B Montgomery
Stanford University
2003
132
56
PMIDPaper TitleJournal TitlePublished Year
38082205Genetic architecture of cardiac dynamic flow volumes.Nat Genet2024
38082205Genetic architecture of cardiac dynamic flow volumes.Nat Genet2024
36711881The mitochondrial multi-omic response to exercise training across tissues.bioRxiv2023
37670157Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
37986808Transcriptomics and chromatin accessibility in multiple African population samples.bioRxiv2023
38057571Organ aging signatures in the plasma proteome track health and disease.Nature2023
37868038The functional impact of rare variation across the regulatory cascade.Cell Genom2023
37857935Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.Nat Genet2023
36713248Beyond the exome: what's next in diagnostic testing for Mendelian conditions.ArXiv2023
36711881The mitochondrial multi-omic response to exercise training across tissues.bioRxiv2023
37541186Beyond the exome: What's next in diagnostic testing for Mendelian conditions.Am J Hum Genet2023
37532928Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
37670157Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
37857935Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases.Nat Genet2023
38057571Organ aging signatures in the plasma proteome track health and disease.Nature2023
37986808Transcriptomics and chromatin accessibility in multiple African population samples.bioRxiv2023
37541186Beyond the exome: What's next in diagnostic testing for Mendelian conditions.Am J Hum Genet2023
37532928Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
37868038The functional impact of rare variation across the regulatory cascade.Cell Genom2023
36713248Beyond the exome: what's next in diagnostic testing for Mendelian conditions.ArXiv2023
35298243Multiple causal variants underlie genetic associations in humans.Science2022
35588732Integration of rare expression outlier-associated variants improves polygenic risk prediction.Am J Hum Genet2022
36350674Deep learning-assisted genome-wide characterization of massively parallel reporter assays.Nucleic Acids Res2022
35922514RNA editing underlies genetic risk of common inflammatory diseases.Nature2022
36447297Methylation differences in Alzheimer's disease neuropathologic change in the aged human brain.Acta Neuropathol Commun2022
35298243Multiple causal variants underlie genetic associations in humans.Science2022
35292083Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes.Genome Med2022
35217565Toward transcriptomics as a primary tool for rare disease investigation.Cold Spring Harb Mol Case Stud2022
35588732Integration of rare expression outlier-associated variants improves polygenic risk prediction.Am J Hum Genet2022
36447297Methylation differences in Alzheimer's disease neuropathologic change in the aged human brain.Acta Neuropathol Commun2022
35922514RNA editing underlies genetic risk of common inflammatory diseases.Nature2022
36350674Deep learning-assisted genome-wide characterization of massively parallel reporter assays.Nucleic Acids Res2022
35292083Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes.Genome Med2022
35217565Toward transcriptomics as a primary tool for rare disease investigation.Cold Spring Harb Mol Case Stud2022
33248247Evaluating the Genomic Parameters Governing rAAV-Mediated Homologous Recombination.Mol Ther2021
33970744Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy.J Neurogenet2021
34216550Nonsense-mediated decay is highly stable across individuals and tissues.Am J Hum Genet2021
34156030The role of Sp140 revealed in IgE and mast cell responses in Collaborative Cross mice.JCI Insight2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
34035245Identification of putative causal loci in whole-genome sequencing data via knockoff statistics.Nat Commun2021
33499903Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.Genome Biol2021
33248247Evaluating the Genomic Parameters Governing rAAV-Mediated Homologous Recombination.Mol Ther2021
34505882Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.Blood Adv2021
34582792An integrated approach to identify environmental modulators of genetic risk factors for complex traits.Am J Hum Genet2021
33771552Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.J Allergy Clin Immunol2021
33499903Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.Genome Biol2021
34582792An integrated approach to identify environmental modulators of genetic risk factors for complex traits.Am J Hum Genet2021
34505882Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.Blood Adv2021
34216550Nonsense-mediated decay is highly stable across individuals and tissues.Am J Hum Genet2021
34156030The role of Sp140 revealed in IgE and mast cell responses in Collaborative Cross mice.JCI Insight2021
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Collaborators

Emmanouil T Dermitzakis
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Alexis Battle
Johns Hopkins University School of Medicine
Co-authored papers 19
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Mark I McCarthy
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Barbara E Stranger
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
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Erik Ingelsson
Stanford University School of Medicine
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Thomas Quertermous
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Alexandra C Nica
Co-authored papers 7
Euan A Ashley
Stanford University
Co-authored papers 6
Manuel A Rivas
Stanford University School of Medicine
Co-authored papers 6
Emily K Tsang
Co-authored papers 6
Release 1.2