Author

Joseph K. Aicher

Observed names: Aicher, Joseph, Aicher, Joseph K, Aicher, Joseph K., Aicher, Joseph Krittameth, Joseph Aicher, Joseph K Aicher

Institution: University of Pennsylvania

Observed institutions: University of North Carolina at Chapel Hill, Children's Hospital of Philadelphia, University of Alabama, University of Colorado Anschutz, University of Pennsylvania

ORCID: 0000-0001-8850-6070

Observed ORCID: 0000-0001-8850-6070

OpenAlex ID: A5006264829

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

2013 · Peter R. Baker, Marisa W. Friederich, et al. · Brain · 223

RNA splicing analysis using heterogeneous and large RNA-seq datasets

2023 · Jorge Vaquero-Garcia, Joseph K. Aicher, et al. · Nature Communications · 121

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

2020 · Joseph K. Aicher, Paul Jewell, et al. · Genetics in Medicine · 94

Enhanced Integrated Gradients: improving interpretability of deep learning models using splicing codes as a case study

2020 · Anupama Jha, Joseph K. Aicher, et al. · Genome biology · 93

ChromoShake: a chromosome dynamics simulator reveals that chromatin loops stiffen centromeric chromatin

2015 · Josh Lawrimore, Joseph K. Aicher, et al. · Molecular Biology of the Cell · 45

Random Forest Analysis of Untargeted Metabolomics Data Suggests Increased Use of Omega Fatty Acid Oxidation Pathway in Drosophila Melanogaster Larvae Fed a Medium Chain Fatty Acid Rich High-Fat Diet

2018 · Vishal Oza, Joseph Aicher, et al. · Metabolites · 16

Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0

2022 · Emily Lubin, Laura Bryant, et al. · Human Genetics · 6

Improving interpretability of deep learning models: splicing codes as a case study

2019 · Anupama Jha, Joseph K. Aicher, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 5

MAJIQ V3 offers improvements in accuracy, performance, and usability for splicing analysis from RNA sequencing

2024 · Joseph K Aicher, Barry Slaff, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 4

MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-seq data

2026 · Joseph K. Aicher, Dina Issakova, et al. · Genetics in Medicine · 2

MAJIQ V3: Scalable and accurate RNA splicing analysis with splicegraph algebra and improved intron retention modeling

2026 · Joseph K Aicher, Barry Slaff, et al. · NAR Genomics and Bioinformatics

MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data

2026 · Aicher, Joseph, Issakova, Dina, et al. · Zenodo (CERN European Organization for Nuclear Research)

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

2025 · Joseph K Aicher, Dina Issakova, et al. · medRxiv

Metabolic network inference with the graphical lasso

2015 · Aicher, Joseph Krittameth, Song, Song, et al. · W. S. Hoole Special Collections Library Manuscript Collections

Works count: 19

Citation count: 611

H-index: 6

I10-index: 6