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E. Holzinger · SciRah

Researcher profile · Semantic Scholar

E. Holzinger

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E. Holzinger — researcher profile on SciRah

h-index: 19
Works: 54
Citations: 6,636

Most-cited papers

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
N. Ioannidis, J. Rothstein, V. Pejaver, S. Middha +37 more
2016American Journal of Human Genetics2,614 citations Open access
Semantic Scholar
New insights into the genetic etiology of Alzheimer’s disease and related dementias
C. Bellenguez, F. Küçükali, I. Jansen, L. Kleineidam +496 more
2022Nature Genetics1,984 citations Open access
Semantic Scholar
Methods of integrating data to uncover genotype–phenotype interactions
M. Ritchie, E. Holzinger, Ruowang Li, S. Pendergrass +1 more
2015Nature reviews genetics1,004 citations
Semantic Scholar
Genetic architecture of human plasma lipidome and its link to cardiovascular disease
Rubina Tabassum, Joel T. Rämö, P. Ripatti, J. Koskela +255 more
2019Nature Communications167 citations Open access
Semantic Scholar
Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants
E. Holzinger, Benjamin J. Grady, M. Ritchie, H. Ribaudo +8 more
2012Pharmacogenetics & Genomics144 citations Open access
Semantic Scholar
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics
A. Musolf, E. Holzinger, J. Malley, J. Bailey-Wilson
2021Human Genetics124 citations Open access
Semantic Scholar
Machine learning and data mining in complex genomic data—a review on the lessons learned in Genetic Analysis Workshop 19
I. König, J. Auerbach, D. Gola, Elizabeth Held +5 more
2016BMC Genetics89 citations Open access
Semantic Scholar
r2VIM: A new variable selection method for random forests in genome-wide association studies
S. Szymczak, E. Holzinger, A. Dasgupta, J. Malley +5 more
2016BioData Mining60 citations Open access
Semantic Scholar
ATHENA: the analysis tool for heritable and environmental network associations
E. Holzinger, S. Dudek, A. Frase, S. Pendergrass +1 more
2014Bioinform.47 citations Open access
Semantic Scholar
Integrating heterogeneous high-throughput data for meta-dimensional pharmacogenomics and disease-related studies
E. Holzinger, M. Ritchie
2012Pharmacogenomics (London)47 citations Open access
Semantic Scholar
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells
Erik L. Bao, Satish K. Nandakumar, Xiaotian Liao, A. Bick +335 more
2020Nature44 citations Open access
Semantic Scholar
Genetic Variation in Iron Metabolism Is Associated with Neuropathic Pain and Pain Severity in HIV-Infected Patients on Antiretroviral Therapy
A. Kallianpur, P. Jia, Ronald J Ellis, Zhong-Ming Zhao +18 more
2014PLoS ONE34 citations Open access
Semantic Scholar
Human Genetics and Genomics for Drug Target Identification and Prioritization: Open Targets' Perspective.
E. McDonagh, G. Trynka, M. Mccarthy, E. Holzinger +6 more
2024Annual Review of Biomedical Data Science29 citations Open access
Semantic Scholar
Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER
E. Holzinger, T. Hulgan, Ronald J Ellis, David C. Samuels +17 more
2012Journal of Neurovirology28 citations Open access
Semantic Scholar
Protein–ligand data at scale to support machine learning
A. Edwards, Dafydd R. Owen, Lei-Li Zhang, Damian W. Young +75 more
2025Nature Reviews Chemistry27 citations
Semantic Scholar
NEXT-GENERATION ANALYSIS OF CATARACTS: DETERMINING KNOWLEDGE DRIVEN GENE-GENE INTERACTIONS USING BIOFILTER, AND GENE-ENVIRONMENT INTERACTIONS USING THE PHENX TOOLKIT
S. Pendergrass, S. Verma, E. Holzinger, C. Moore +8 more
2012Pacific Symposium on Biocomputing25 citations Open access
Semantic Scholar
Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)
R. De, S. Verma, F. Drenos, E. Holzinger +15 more
2015BioData Mining22 citations Open access
Semantic Scholar
Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects
E. Holzinger, C. Buchanan, S. Dudek, E. Torstenson +2 more
2010Annual Conference on Genetic and Evolutionary Computation22 citations Open access
Semantic Scholar
ATHENA: A TOOL FOR META-DIMENSIONAL ANALYSIS APPLIED TO GENOTYPES AND GENE EXPRESSION DATA TO PREDICT HDL CHOLESTEROL LEVELS
E. Holzinger, S. Dudek, A. Frase, R. Krauss +2 more
2012Pacific Symposium on Biocomputing21 citations Open access
Semantic Scholar
Genetic Association Reveals Protection against Recurrence of Clostridium difficile Infection with Bezlotoxumab Treatment
Ju-Dong Shen, D. Mehrotra, M. Dorr, Zhen Zeng +8 more
2020Msphere16 citations Open access
Semantic Scholar
Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts
R. De, S. Verma, E. Holzinger, Molly A. Hall +20 more
2016Human Genetics15 citations Open access
Semantic Scholar
VARIABLE SELECTION METHOD FOR THE IDENTIFICATION OF EPISTATIC MODELS
E. Holzinger, S. Szymczak, A. Dasgupta, J. Malley +2 more
2014Pacific Symposium on Biocomputing15 citations Open access
Semantic Scholar
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families
E. Holzinger, Qing Li, M. Parker, J. Hetmanski +13 more
2017Molecular Genetics & Genomic Medicine13 citations Open access
Semantic Scholar
Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals
E. Holzinger, S. Verma, C. Moore, Molly A. Hall +48 more
2017BioData Mining11 citations Open access
Semantic Scholar
Comparison of Methods for Meta-dimensional Data Analysis Using in Silico and Biological Data Sets
E. Holzinger, S. Dudek, A. Frase, B. Fridley +2 more
2012Evolutionary Computation, Machine Learning and Data Mining in Bioinformatics11 citations
Semantic Scholar
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Hye In Kim, C. DeBoever, K. Walter, G. Kalantzis +47 more
2025medRxiv8 citations Open access
Semantic Scholar
Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families
Claire L. Simpson, A. Musolf, Qing Li, L. Portas +9 more
2019BMC Medical Genetics6 citations Open access
Semantic Scholar
ATHENA Optimization: The Effect of Initial Parameter Settings across Different Genetic Models
E. Holzinger, S. Dudek, E. Torstenson, M. Ritchie
2011Evolutionary Computation, Machine Learning and Data Mining in Bioinformatics6 citations
Semantic Scholar
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus
K. Freimann, Anneke Brümmer, R. Warmerdam, T. Rupall +136 more
2025Nature Communications4 citations Open access
Semantic Scholar
Proteome‐Wide Mendelian Randomization Identifies Candidate Causal Proteins for Cardiovascular Diseases
Chen Li, N. De Jay, Shan-Shan Zhang, Xin Fang +10 more
2025Advanced genetics4 citations Open access
Semantic Scholar
Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease
Conor J. Howard, Nathan S. Abell, Robert Warneford-Thomson, Eden Mahdavi +20 more
2025bioRxiv4 citations Open access
Semantic Scholar
Proteome-wide Mendelian randomization identifies candidate causal proteins for cardiovascular diseases
Chen Li, N. De Jay, Supriya Sharma, Katrina A. Catalano +8 more
2023medRxiv4 citations Open access
Semantic Scholar
AB0003 PHENOTYPIC EFFECTS OF GENETIC LOSS OF FUNCTION IN TYROSINE KINASE 2 USING LARGE-SCALE BIOBANKS
N. Raghupathy, E. Kvikstad, E. Holzinger, I. Catlett +1 more
2022Annals of the Rheumatic Diseases3 citations Open access
Semantic Scholar
ERRATUM: NEXT-GENERATION ANALYSIS OF CATARACTS: DETERMINING KNOWLEDGE DRIVEN GENE-GENE INTERACTIONS USING BIOFILTER, AND GENE-ENVIRONMENT INTERACTIONS USING THE PHENX TOOLKIT
S. Pendergrass, S. Verma, Molly A. Hall, E. Holzinger +9 more
20143 citations
Semantic Scholar
A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly
Claire L. Simpson, Danielle C. Kimble, S. Chandrasekharappa, Khalid Alqosayer +7 more
2022medRxiv2 citations Open access
Semantic Scholar
Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data
E. Holzinger, S. Szymczak, J. Malley, E. Pugh +6 more
2016BMC Proceedings2 citations Open access
Semantic Scholar
Meta-Dimensional Analysis of Phenotypes Using the Analysis Tool for Heritable and Environmental Network Associations (ATHENA): Challenges with Building Large Networks
M. Ritchie, E. Holzinger, S. Dudek, A. Frase +2 more
20132 citations
Semantic Scholar
Impact of proteogenomic evidence on clinical success
M. Karim, A. Hukku, B. Ariano, E. Holzinger +9 more
2026medRxiv1 citations Open access
Semantic Scholar
USP18 modulates lupus risk via negative regulation of interferon response
K. Freimann, A. BruÌmmer, R. Warmerdam, T. Rupall +17 more
2024medRxiv1 citations Open access
Semantic Scholar
Erratum: Next-generation analysis of cataracts: Determining knowledge driven gene-gene interactions using biofilter, and geneenvironment interactions using the phenx toolkit (Biocomputing (2013) (147-158))
S. Pendergrass, S. Verma, E. Holzinger, C. Moore +8 more
20151 citations
Semantic Scholar
Evaluation of Parameter Contribution to Neural Network Size and Fitness in ATHENA for Genetic Analysis
Ruowang Li, E. Holzinger, S. Dudek, M. Ritchie
2013Genetic Programming Theory and Practice1 citations
Semantic Scholar
Genetic dose-response modelling predicts drug mechanisms, dosing, and adverse events
L. Stefanucci, D. Considine, Z. Ke, J. Hellewell +20 more
2026medRxiv0 citations Open access
Semantic Scholar
Protein Homeostasis Screen Identifies CK2 Inhibition as a Driver of CARD9 Depletion.
Aya M. Kelly, Leidy C. Merselis, B. Causton, Olivia K. Calder +27 more
2026ACS Chemical Biology0 citations
Semantic Scholar
A proteomic polygenic score to identify IL-18 driven inflammatory bowel disease
M. Turchin, N. Raghupathy, C. Carty, M. Morris +2 more
2026medRxiv0 citations Open access
Semantic Scholar
Association and risk prediction of 19 complex diseases with polygenic scores and socioeconomic status
F. Hagenbeek, Anne Richmond, Max Tamlander, K. Detrois +430 more
2026Communications Medicine0 citations Open access
Semantic Scholar
Single-cell multi-ancestry regulatory map of systemic lupus erythematosus
Haerin Jang, C. Sutherland, Wanseon Lee, N. de Klein +18 more
2026bioRxiv0 citations Open access
Semantic Scholar
CK2 directly controls CARD9 protein homeostasis
Aya M. Kelly, Leidy C. Merselis, B. Causton, Olivia K. Calder +27 more
2025bioRxiv0 citations Open access
Semantic Scholar
the genetic etiology
C. Bellenguez, L. Kleineidam, Amin Najaf Sonia, A. Naj +337 more
20230 citations
Semantic Scholar
016 Phenotypic effects of genetic loss of function in tyrosine kinase 2 (TYK2) using large-scale biobanks
N. Raghupathy, E. Kvikstad, E. Holzinger, I. M. Catlett +1 more
2022Journal of Investigative Dermatology0 citations Open access
Semantic Scholar
Peer Review #2 of "Efficacy of computational predictions of the functional effect of idiosyncratic pharmacogenetic variants (v0.3)"
Hannah Mcconnell, T. Daniel, Andrews Corresp, Matt A. Field +241 more
20210 citations Open access
Semantic Scholar

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