Rachel A. Ungar

Stanford University

9H指数

32论文数

225被引数

收录论文 6

发表时间

GREGoR: accelerating genomics for rare diseases GREGoR：加速罕见病基因组学研究

Nature

IF48.5

2025-11-12

PREAI

Moez Dawood; Ben Heavner; Marsha M. Wheeler; Rachel A. Ungar; Jonathan LoTempio; Laurens Wiel; Seth Berger; Jonathan A. Bernstein; Jessica X. Chong; Emmanuèle C. Délot; Evan E. Eichler; James R. Lupski; Ali Shojaie; Michael E. Talkowski; Alex H. Wagner; Chia-Lin Wei; Christopher Wellington; Matthew T. Wheeler; Claudia M. B. Carvalho; Richard A. Gibbs; Casey A. Gifford; Susanne May; Danny E. Miller; Heidi L. Rehm; Kaitlin E. Samocha; Fritz J. Sedlazeck; Eric Vilain; Anne O’Donnell-Luria; Jennifer E. Posey; Lisa H. Chadwick; Michael J. Bamshad; Stephen B. Montgomery

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies 转录组范围离群值方法识别具有微小剪接病变的个体

american journal of human genetics

IF0

2025-09-19

OAAI

Taylor M. Arriaga; Rodrigo Mendez; Rachel A. Ungar; Devon E. Bonner; Dena R. Matalon; Gabrielle Lemire; Pagé C. Goddard; Evin M. Padhi; Alexander M. Miller; Jonathan V. Nguyen; Jialan Ma; Kevin S. Smith; Stuart A. Scott; Linda Liao; Zena Ng; Shruti Marwaha; Guney Bademci; Stephanie A. Bivona; Mustafa Tekin; Jonathan A. Bernstein; Stephen B. Montgomery; Anne O’Donnell-Luria; Matthew T. Wheeler; Vijay S. Ganesh

Transcriptomic signatures of rare variant impacts across sex and the X chromosome 性染色体和X染色体上稀有变异影响的转录组特征

Human Genetics and Genomics Advances

IF3.6

2025-05-31

OAAI

Rachel A. Ungar; Taibo Li; Nikolai G. Vetr; Nicole Ersaro; Alexis Battle; Stephen B. Montgomery

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

GENETICS IN MEDICINE

IF6.2

2024-09-01

PREAI

Kohler, Jennefer N.; Legro, Nicole R.; Baldridge, Dustin; Shin, Jimann; Bowman, Angela; Ugur, Berrak; Jackstadt, Madelyn M.; Shriver, Leah P.; Patti, Gary J.; Zhang, Bo; Feng, Wenjia; McAdow, Anthony R.; Goddard, Page; Ungar, Rachel A.; Jensen, Tanner; Smith, Kevin S.; Fresard, Laure; Alvarez, Raquel; Bonner, Devon; Reuter, Chloe M.; McCormack, Colleen; Kravets, Elijah; Marwaha, Shruti; Holt, James M.; Worthey, Elizabeth A.; Ashley, Euan A.; Montgomery, Stephen B.; Fisher, Paul G.; Postlethwait, John; De Camilli, Pietro; Solnica-Krezel, Lila; Bernstein, Jonathan A.; Wheeler, Matthew T.

Impact of genome build on RNA-seq interpretation and diagnostics

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-07-01

OAAI

Ungar, Rachel A.; Goddard, Page C.; Jensen, Tanner D.; Degalez, Fabien; Smith, Kevin S.; Jin, Christopher A.; Bonner, Devon E.; Bernstein, Jonathan A.; Wheeler, Matthew T.; Montgomery, Stephen B.

Increasing equity in science requires better ethics training: A course by trainees, for trainees

CELL GENOMICS

IF9

2024-05-01

OAAI

Patel, Roshni A.; Ungar, Rachel A.; Pyke, Alanna L.; Adimoelja, Alvina; Chakraborty, Meenakshi; Cotter, Daniel J.; Freund, Malika; Goddard, Page; Gomez-Stafford, Justin; Greenwald, Emily; Higgs, Emily; Hunter, Naiomi; MacKenzie, Tim M. G.; Narain, Anjali; Gjorgjieva, Tamara; Martschenko, Daphne O.

研究方向