Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants RA Ungar, N Giri, M Pao, PP Khincha, W Zhou, BP Alter, SA Savage American Journal of Medical Genetics Part A 176 (6), 1432-1437, 2018 | 9 | 2018 |
Transcriptomics and chromatin accessibility in multiple African population samples MK DeGorter, PC Goddard, E Karakoc, S Kundu, SM Yan, D Nachun, ... bioRxiv, 2023 | 3 | 2023 |
Impact of genome build on RNA-seq interpretation and diagnostics RA Ungar, PC Goddard, TD Jensen, F Degalez, KS Smith, CA Jin, ... The American Journal of Human Genetics, 2024 | 2 | 2024 |
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder JN Kohler, NR Legro, D Baldridge, J Shin, A Bowman, B Ugur, ... Genetics in Medicine 26 (9), 101166, 2024 | 1 | 2024 |
Increasing equity in science requires better ethics training: A course by trainees, for trainees RA Patel, RA Ungar, AL Pyke, A Adimoelja, M Chakraborty, DJ Cotter, ... Cell Genomics 4 (5), 2024 | 1 | 2024 |
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease TD Jensen, B Ni, CM Reuter, JE Gorzynski, S Fazal, D Bonner, RA Ungar, ... medRxiv, 2024 | 1 | 2024 |
Cover Image, Volume 176A, Number 6, June 2018 RA Ungar, N Giri, M Pao, PP Khincha, W Zhou, BP Alter, SA Savage American Journal of Medical Genetics Part A 176 (6), i-i, 2018 | | 2018 |