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Author Details
Full Name
Emily R Holzinger
Affiliation
National Human Genome Research Institute, National Institutes of Health
ORCID
Career Start Year
2010
Papers
23
H Index
12
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37070724
A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
Mol Genet Genomic Med
2023
34862561
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics.
Hum Genet
2022
32376702
Genetic Association Reveals Protection against Recurrence of <i>Clostridium difficile</i> Infection with Bezlotoxumab Treatment.
mSphere
2020
30704416
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families.
BMC Med Genet
2019
27848076
Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts.
Hum Genet
2017
28944239
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.
Mol Genet Genomic Med
2017
28770004
Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.
BioData Min
2017
26839594
r2VIM: A new variable selection method for random forests in genome-wide association studies.
BioData Min
2016
27980627
Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data.
BMC Proc
2016
27666373
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Am J Hum Genet
2016
26866367
Machine learning and data mining in complex genomic data--a review on the lessons learned in Genetic Analysis Workshop 19.
BMC Genet
2016
25582081
Methods of integrating data to uncover genotype-phenotype interactions.
Nat Rev Genet
2015
26674805
Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).
BioData Min
2015
25741542
Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using biofilter, and gene-environment interactions using the Phenx Toolkit*.
Pac Symp Biocomput
2015
25592581
Variable selection method for the identification of epistatic models.
Pac Symp Biocomput
2015
24149050
ATHENA: the analysis tool for heritable and environmental network associations.
Bioinformatics
2014
25144566
Genetic variation in iron metabolism is associated with neuropathic pain and pain severity in HIV-infected patients on antiretroviral therapy.
PLoS One
2014
23424120
Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit.
Pac Symp Biocomput
2013
23424143
ATHENA: a tool for meta-dimensional analysis applied to genotypes and gene expression data to predict HDL cholesterol levels.
Pac Symp Biocomput
2013
22256870
Integrating heterogeneous high-throughput data for meta-dimensional pharmacogenomics and disease-related studies.
Pharmacogenomics
2012
23080225
Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants.
Pharmacogenet Genomics
2012
23073667
Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER.
J Neurovirol
2012
21152364
Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects.
Genet Evol Comput Conf
2010
1 - 23 of 23
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