| 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 |
| 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 | 6 | 2024 |
| Transcriptomics and chromatin accessibility in multiple African population samples MK DeGorter, PC Goddard, E Karakoc, S Kundu, SM Yan, D Nachun, ... bioRxiv, 2023 | 6 | 2023 |
| 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 | 3 | 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 |
| Functional impact of rare variants and sex across the X-chromosome and autosomes RA Ungar, T Li, NG Vetr, NM Ersaro, A Battle, SB Montgomery bioRxiv, 2025.01. 23.634570, 2025 | | 2025 |
| Transcriptome-wide outlier approach identifies individuals with minor spliceopathies MT Arriaga, R Mendez, RA Ungar, DE Bonner, DR Matalon, G Lemire, ... medRxiv, 2025.01. 02.24318941, 2025 | | 2025 |
| GREGoR: Accelerating Genomics for Rare Diseases M Dawood, B Heavner, MM Wheeler, RA Ungar, J LoTempio, L Wiel, ... arXiv preprint arXiv:2412.14338, 2024 | | 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 |
