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- November 7, 2019.
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- Version 1 (November 2, 2019 - 14:41).
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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
Author Information
- Emily M. Mace1,*,
- Silke Paust2,
- Matilde I. Conte1,
- Ryan M. Baxley3,
- Megan Schmit3,
- Nicole C. Guilz1,
- Malini Mukherjee4,5,a,
- Ashley E. Pezzi4,5,b,
- Jolanta Chmielowiec6,
- Swetha Tatineni4,7,
- Ivan K. Chinn5,8,
- Zeynep Coban Akdemir8,
- Shalini N. Jhangiani8,
- Donna M. Muzny8,9,
- Asbjørg Stray-Pedersen10,
- Rachel E. Bradley11,
- Mo Moody11,
- Philip P. Connor11,
- Adrian G. Heaps12,
- Colin Steward13,
- Pinaki P. Banerjee4,5,c,
- Richard A. Gibbs8,
- Malgorziata Borowiak6,
- James R. Lupski5,8,9,
- Stephen Jolles11,
- Anja K. Bielinsky3 and
- Jordan S. Orange1
- 1Department of Pediatrics, Columbia University Irving Medical Center, New York NY USA 10032
- 2Department of Immunology and Microbiology, Scripps Research Institute La Jolla CA USA
- 3Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455
- 4Center for Human Immunobiology, Texas Children’s Hospital, Houston TX USA 77030
- 5Department of Pediatrics, Baylor College of Medicine Houston TX USA 77030
- 6Program in Developmental Biology, Baylor College of Medicine; Center for Cell and Gene Therapy, Texas Children’s Hospital, and Houston Methodist Hospital, Baylor College of Medicine; Molecular and Cellular Biology Department, Baylor College of Medicine; Stem Cell and Regenerative Medicine Center, Baylor College of Medicine; McNair Medical Institute, Baylor College of Medicine, Houston TX 77030
- 7Rice University, Houston TX USA 77005
- 8Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
- 9Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA
- 10Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo, Norway
- 11Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales
- 12Department of Virology & Immunology, North Cumbria University Hospitals, Carlisle, UK
- 13Department of Paediatric Haematology, Oncology and Bone Marrow Transplantation, Bristol Royal Hospital for Children, Bristol, UK
- ↵*Correspondence: em3375{at}cumc.columbia.edu