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Jenny Goldstein
University of North Carolina at Chapel Hill
· US
🔎 Find collaborators in Genetics · Physiology →
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Area of research
Genetics · Physiology
Research interest
Research interests include Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, and Topic Modeling.
h-index
2
citations
617
works
8
NIH funding
—
primary concept
—
email
✉ Find email ↗
Recent publications
P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
Genetics in Medicine Open
2024
cited by
0
position: middle
doi
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
The American Journal of Human Genetics
2017
cited by
560
position: middle
doi
Grants
No grants ingested yet.
Frequent collaborators
Emily Groopman
· Columbia University
1
papers (2024–2024)
Erin M. Ramos
· National Institutes of Health
1
papers (2017–2017)
Heidi L. Rehm
· Vanderbilt University Medical Center
1
papers (2017–2017)
Erin Rooney Riggs
· Geisinger Medical Center
1
papers (2017–2017)
Marina T. DiStefano
· University of Massachusetts Chan Medical School
1
papers (2017–2017)
Daniel S. Reich
· National Institutes of Health
1
papers (2024–2024)
Nicole Si Yan Liang
· Hospital for Sick Children
1
papers (2024–2024)
Jonathan S. Berg
· University of North Carolina at Chapel Hill
1
papers (2017–2017)
Sharon E. Plon
· Baylor College of Medicine
1
papers (2017–2017)
Matt W. Wright
· Stanford University
1
papers (2017–2017)
Rajarshi Ghosh
· National Institutes of Health
1
papers (2017–2017)
Nicola Longo
· University of Utah
1
papers (2024–2024)
Avni Santani
· Seattle Children's Hospital
1
papers (2017–2017)
Natasha T. Strande
· WinnMed
1
papers (2017–2017)
Julianne O’Daniel
· University of North Carolina at Chapel Hill
1
papers (2017–2017)
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·
1
papers (2017–2017)
Michael F. Murray
· Icahn School of Medicine at Mount Sinai
1
papers (2017–2017)
J. Michael Cherry
· Stanford University
1
papers (2017–2017)
Sarah Young
· University of Sheffield
1
papers (2024–2024)
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·
1
papers (2024–2024)
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