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Author Details

Emily R Holzinger
National Human Genome Research Institute, National Institutes of Health
2010
23
12
PMIDPaper TitleJournal TitlePublished Year
37070724A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.Mol Genet Genomic Med2023
34862561What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics.Hum Genet2022
32376702Genetic Association Reveals Protection against Recurrence of <i>Clostridium difficile</i> Infection with Bezlotoxumab Treatment.mSphere2020
30704416Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.BMC Med Genet2019
27848076Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts.Hum Genet2017
28944239Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.Mol Genet Genomic Med2017
28770004Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.BioData Min2017
26839594r2VIM: A new variable selection method for random forests in genome-wide association studies.BioData Min2016
27980627Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data.BMC Proc2016
27666373REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.Am J Hum Genet2016
26866367Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19.BMC Genet2016
25582081Methods of integrating data to uncover genotype-phenotype interactions.Nat Rev Genet2015
26674805Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).BioData Min2015
25741542Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using biofilter, and gene-environment interactions using the Phenx Toolkit*.Pac Symp Biocomput2015
25592581Variable selection method for the identification of epistatic models.Pac Symp Biocomput2015
24149050ATHENA: the analysis tool for heritable and environmental network associations.Bioinformatics2014
25144566Genetic variation in iron metabolism is associated with neuropathic pain and pain severity in HIV-infected patients on antiretroviral therapy.PLoS One2014
23424120Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit.Pac Symp Biocomput2013
23424143ATHENA: a tool for meta-dimensional analysis applied to genotypes and gene expression data to predict HDL cholesterol levels.Pac Symp Biocomput2013
22256870Integrating heterogeneous high-throughput data for meta-dimensional pharmacogenomics and disease-related studies.Pharmacogenomics2012
23080225Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants.Pharmacogenet Genomics2012
23073667Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER.J Neurovirol2012
21152364Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects.Genet Evol Comput Conf2010
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Collaborators

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Perelman School of Medicine, University of Pennsylvania
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Washington University School of Medicine
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Vanderbilt University Medical Center
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University of California
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Icahn School of Medicine at Mount Sinai
Co-authored papers 2
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Johns Hopkins School of Medicine
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Cleveland Clinic/Lerner Research Institute
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Beth Israel Deaconess Medical Center
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