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Rachel A. Ungar
Rachel A. Ungar
在 stanford.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
92018
Transcriptomics and chromatin accessibility in multiple African population samples
MK DeGorter, PC Goddard, E Karakoc, S Kundu, SM Yan, D Nachun, ...
bioRxiv, 2023
52023
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
32024
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
32024
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
12024
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
12024
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
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