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Yuan-Yuan Ho
Yuan-Yuan Ho
Biology
Genetics
Pathology
Diabetes mellitus
Metabolism
6
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297
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Genetic testing for lysosomal disorders in a commercial laboratory: Use of pathognomonic criteria in variant interpretation
2018
Molecular Genetics and Metabolism
Laura Murillo
Rachel Harte
Stacey Wong
Yuan-Yuan Ho
Daniel Beltrán
Michelle Fox
Hannah White
Tom Winder
Britt Johnson
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Molecular diagnostic findings of lysosomal diseases in children and adults suspected to have inborn errors of metabolism
2018
Molecular Genetics and Metabolism
Yuan-Yuan Ho
Laura Murillo
Daniel Beltrán
Rachel Harte
Hannah White
Stacey Wong
Michelle Fox
Tom Winder
Britt Johnson
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Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria
2017
Genetics in Medicine
Keith Nykamp
Michael Anderson
Martin Powers
John Garcia
Blanca Herrera
Yuan-Yuan Ho
Yuya Kobayashi
Nila Patil
Janita Thusberg
Marjorie Westbrook
Scott Topper
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Citations (273)
Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF
2012
Neurology
Yuan-Yuan Ho
Iuliana Ionita-Laza
Ruth Ottman
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Citations (24)
1