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GR

Gabriele Richard

Medical Genetics, Ph.D. Medical Genetics

Credentials:

Research

Clinical application of whole-exome sequencing across clinical indications
Genetics in Medicine · 2016 · 852 citations
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009
Review · Journal of the American Academy of Dermatology · 2010 · 543 citations
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
Nature Genetics · 2004 · 434 citations

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Jouni Uitto
27 papers
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Eli Sprecher
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Daniel Shurman
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Wendy Chung
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Christopher Miller
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Daniel Wasserman
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Ervin Epstein
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Ethylin Jabs
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