| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ... Brain 137 (2), 366-379, 2014 | 229 | 2014 |
| Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq JK Aicher, P Jewell, J Vaquero-Garcia, Y Barash, EJ Bhoj Genetics in Medicine 22 (7), 1181-1190, 2020 | 64 | 2020 |
| ChromoShake: a chromosome dynamics simulator reveals that chromatin loops stiffen centromeric chromatin J Lawrimore, JK Aicher, P Hahn, A Fulp, B Kompa, L Vicci, M Falvo, ... Molecular biology of the cell 27 (1), 153-166, 2016 | 45 | 2016 |
| Enhanced Integrated Gradients: improving interpretability of deep learning models using splicing codes as a case study A Jha, JK Aicher, MR Gazzara, D Singh, Y Barash Genome Biology 21 (1), 1-22, 2020 | 44 | 2020 |
| RNA splicing analysis using heterogeneous and large RNA-seq datasets J Vaquero-Garcia, JK Aicher, S Jewell, MR Gazzara, CM Radens, A Jha, ... Nature Communications 14 (1), 1230, 2023 | 16 | 2023 |
| 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 … VH Oza, JK Aicher, LK Reed Metabolites 9 (1), 5, 2018 | 11 | 2018 |
| Improving interpretability of deep learning models: splicing codes as a case study A Jha, JK Aicher, D Singh, Y Barash bioRxiv, 700096, 2019 | 5 | 2019 |
| Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0 E Lubin, L Bryant, J Aicher, D Li, E Bhoj Human Genetics 141 (8), 1409-1421, 2022 | 3 | 2022 |
| Defects in lipoate synthesis cause variant non-ketotic hyperglycinemia P Baker, G Scharer, G Creadon-Swindel, J Aicher, T Shaikh, F Frerman, ... MOLECULAR GENETICS AND METABOLISM 105 (3), 289-290, 2012 | 1 | 2012 |
| Improving Molecular Diagnosis of Suspected Mendelian Disorders with RNA Splicing Analysis JK Aicher University of Pennsylvania, 2022 | | 2022 |
| Metabolic network inference with the graphical lasso JK Aicher The University of Alabama, 2015 | | 2015 |
