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Joseph K. Aicher | Researchclopedia

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Joseph K. Aicher

University of Pennsylvania ORCID

17

Works

605

Citations

8

h-index

7

i10-index

Research Topics

RNA modifications and cancer RNA Research and Splicing Cancer-related molecular mechanisms research

Affiliations

University of North Carolina at Chapel Hill2015–2020

Children's Hospital of Philadelphia2019–2023

University of Alabama2015–2018

Genomics (United Kingdom)2019–2019

University of Colorado Anschutz Medical Campus2013–2013

Top Works

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

Peter R. Baker,Marisa W. Friederich,et al.

2013222 citations

Genomics and Chromatin Dynamics

RNA and protein synthesis mechanisms

RNA splicing analysis using heterogeneous and large RNA-seq datasets

Jorge Vaquero-Garcia,Joseph K. Aicher,et al.

2023104 citations

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

Joseph K. Aicher,Paul Jewell,et al.

202097 citations

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

Anupama Jha,Joseph K. Aicher,et al.

202087 citations

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

Josh Lawrimore,Joseph K. Aicher,et al.

201545 citations

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

Vishal H. Oza,Joseph K. Aicher,et al.

201817 citations

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

Joseph K. Aicher,Paul Jewell,et al.

201913 citations

RNA splicing analysis using heterogeneous and large RNA-seq datasets

Jorge Vaquero-Garcia,Joseph K. Aicher,et al.

20218 citations

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

Emily E. Lubin,Laura Bryant,et al.

20227 citations