| Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome M Cohen, R Persky, R Stegemann, LC Hernández-Ramírez, D Zeltser, ... The Journal of Clinical Endocrinology & Metabolism 104 (10), 4676-4682, 2019 | 58 | 2019 |
| Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency A Chen, D Tiosano, T Guran, HN Baris, Y Bayram, A Mory, ... Human molecular genetics 27 (11), 1913-1926, 2018 | 54 | 2018 |
| Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction D Tiosano, HN Baris, A Chen, MM Hitzert, M Schueler, F Gulluni, ... PLoS genetics 15 (4), e1008088, 2019 | 51 | 2019 |
| PI (3, 4) P2-mediated cytokinetic abscission prevents early senescence and cataract formation F Gulluni, L Prever, H Li, P Krafcikova, I Corrado, WT Lo, JP Margaria, ... Science 374 (6573), eabk0410, 2021 | 36 | 2021 |
| Widespread epistasis regulates glucose homeostasis and gene expression A Chen, Y Liu, SM Williams, N Morris, DA Buchner PLoS genetics 13 (9), e1007025, 2017 | 15 | 2017 |
| Multiplex base editing to convert TAG into TAA codons in the human genome Y Chen, E Hysolli, A Chen, S Casper, S Liu, K Yang, C Liu, G Church Nature communications 13 (1), 4482, 2022 | 14 | 2022 |
| A novel mapping strategy utilizing mouse chromosome substitution strains identifies multiple epistatic interactions that regulate complex traits AK Miller, A Chen, J Bartlett, L Wang, SM Williams, DA Buchner G3: Genes, Genomes, Genetics 10 (12), 4553-4563, 2020 | 7 | 2020 |
| Widespread Inter-Chromosomal Epistasis Regulates Glucose Homeostasis and Gene Expression A Chen, Y Liu, SM Williams, N Morris, DA Buchner bioRxiv, 132175, 2017 | 1 | 2017 |
| Epistatic Regulation of Hematological-related Traits and Gene Expression in Mice Reveals Additional Heritability Missed by Standard GWAS-type Analyses A Miller, A Chen, D Buchner, S Williams CIRCULATION 141, 2020 | | 2020 |
| Abstract P455: Epistatic Regulation of Hematological-related Traits and Gene Expression in Mice Reveals Additional Heritability Missed by Standard GWAS-type Analyses A Miller, A Chen, D Buchner, S Williams Circulation 141 (Suppl_1), AP455-AP455, 2020 | | 2020 |
| Applying Forward Genetic Approaches to Rare Mendelian Disorders and Complex Traits A Chen Case Western Reserve University, 2018 | | 2018 |
