Joseph K. Aicher

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

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 219 citations · Full text

Genetics, Pathology, Molecular Genetics +18

RNA splicing analysis using heterogeneous and large RNA-seq datasets

Jorge Vaquero-Garcia, Joseph K. Aicher, San Jewell et al. · Nature Communications · 2023 · 100 citations · Full text

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

Joseph K. Aicher, Paul Jewell, Jorge Vaquero-Garcia et al. · Genetics in Medicine · 2020 · 93 citations · Full text

Functional Genomics, Mendelian Disorder, Medicine +11

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

Anupama Jha, Joseph K. Aicher, Matthew R. Gazzara et al. · Genome biology · 2020 · 82 citations · Full text

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

Josh Lawrimore, Joseph K. Aicher, Patrick J. Hahn et al. · Molecular Biology of the Cell · 2015 · 45 citations · Full text

Cytogenetics, Genetics, Molecular Biology +21