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Research Interests

Papers共 123 篇Author StatisticsCo-AuthorSimilar Experts

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期刊级别
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A Genome-Wide Approach for the Discovery of Novel Repeat Expansion Disorders in the Undiagnosed Diseases Network Cohort
Sarah Fazal,Harriet Dashnow,Maike F Dohrn, Jacquelyn Raposo, Laurel Hiatt,Matt C Danzi, Isaac R L Xu,Camilo Toro,David R Adams,Karen Usdin,Bruce Hayward,Shilpa Nadimpalli Kobren,Shamil R Sunyaev, Rebecca C Spillmann,Vandana Shashi,Adriana Rebelo,Guney Bademci, Undiagnosed Diseases Network,Mustafa Tekin,Aaron R Quinlan,Stephan Züchner
Genetics in medicine official journal of the American College of Medical Geneticspp.101462-101462, (2025)
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Biallelic Variants in the RFC4 Gene Cause a Rapidly Progressive Congenital Myopathy with Severe Hypotonia and Axial Weakness
Barbora Lauerova, Anezka Dolanska,Petra Lassuthova, Denisa Stanclova, Marie Rohlenova,Marie Morimoto,Stephan Zuchner, Isaac R L Xu,Adriana Rebelo, Jana Haberlova
Neuromuscular disorders NMD (2025): 105366-105366
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Author Statistics

#Papers: 123

#Citation: 2310

H-Index: 25

G-Index: 48

Sociability: 7

Diversity: 2

Activity: 46

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