Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome | NEJM

Mallory J. Owen, M.B., Ch.B. Rady Children’s Institute for Genomic Medicine, San Diego, CA mowen1@rchsd.org

Anna-Kaisa Niemi, M.D., Ph.D. Rady Children’s Hospital, San Diego, CA

David P. Dimmock, M.B., B.S. Rady Children’s Institute for Genomic Medicine, San Diego, CA

Mark Speziale, M.D., Ph.D. Mark Nespeca, M.D. Rady Children’s Hospital, San Diego, CA

Kevin K. Chau, M.S. Luca Van Der Kraan, B.S. Meredith S. Wright, Ph.D. Christian Hansen, B.S. Narayanan Veeraraghavan, Ph.D. Yan Ding, M.B., M.Sc. Jerica Lenberg, M.S. Shimul Chowdhury, Ph.D. Charlotte A. Hobbs, M.D., Ph.D. Sergey Batalov, M.S. Zhanyang Zhu, Ph.D. Shareef A. Nahas, Ph.D. Rady Children’s Institute for Genomic Medicine, San Diego, CA

Sheldon Gilmer Gail Knight, M.D. Rady Children’s Hospital, San Diego, CA

Sebastien Lefebvre, M.S. John Reynders, Ph.D. Thomas Defay, Ph.D. Alexion Pharmaceuticals, Boston, MA

Jacqueline Weir, M.Sci. Vicki S. Thomson, Ph.D. Louise Fraser, Ph.D. Bryan R. Lajoie, Ph.D. Tim K. McPhail, Ph.D. Shyamal S. Mehtalia, M.S. Chris M. Kunard, M.S. Kevin P. Hall, D.Phil. Illumina, San Diego, CA

Stephen F. Kingsmore, M.B., Ch.B., D.Sc. Rady Children’s Institute for Genomic Medicine, San Diego, CA skingsmore@rchsd.org