P252: Development of a scoring system to define lysosomal diseases

• Matheus Wilke,
• Jenny Goldstein,
• Emily Groopman,
• Shruthi Mohan,
• Amber Waddell,
• Raquel Fernandez,
• Hongjie Chen,
• Deeksha Bali,
• Heather Baudet,
• Lorne Clarke,
• Christina Hung,
• Rong Mao,
• Tatiana Yuzyuk,
• William Craigen,
• Filippo Pinto e Vairo

Affiliations

Matheus Wilke

Mayo Clinic

Jenny Goldstein

University of North Carolina at Chapel Hill, Chapel Hill, NC

Emily Groopman

Children’s National Hospital, Washington, DC

Shruthi Mohan

University of North Carolina at Chapel Hill, Chapel Hill, NC

Amber Waddell

University of North Carolina at Chapel Hill, Chapel Hill, NC

Raquel Fernandez

American College of Medical Genetics and Genomics, Bethesda, MD

Hongjie Chen

PreventionGenetics/Exact Sciences, Marshfield, WI

Deeksha Bali

Duke University Health System, Durham, NC

Heather Baudet

University of North Carolina at Chapel Hill, Chapel Hill, NC

Lorne Clarke

University of British Columbia, Vancouver, Canada

Christina Hung

Invitae, San Francisco, CA

Rong Mao

ARUP, Salt Lake City, UT and University of Utah, Salt Lake City, UT

Tatiana Yuzyuk

ARUP, Salt Lake City, UT

William Craigen

Baylor College of Medicine, Houston, TX

Filippo Pinto e Vairo

Mayo Clinic, Rochester, MN