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History
- August 3, 2016.
Copyright
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
Author Information
- Frederike Leonie Harms123,
- Katta Mohan Girisha223*,
- Andrew A. Hardigan3,423,
- Fanny Kortüm1,
- Anju Shukla2,
- Malik Alawi5,6,7,
- Ashwin Dalal8,
- Lauren Brady9,
- Mark Tarnopolsky9,
- Lynne M. Bird10,11,
- Sophia Ceulemans11,
- Martina Bebin12,
- Kevin M. Bowling3,
- Susan M. Hiatt3,
- Edward J. Lose13,
- Michelle Primiano14,
- Wendy K. Chung14,
- Jane Juusola15,
- Zeynep C. Akdemir16,
- Matthew Bainbridge17,
- Wu-Lin Charng16,
- Margaret Drummond-Borg18,
- Mohammad K. Eldomery16,
- Ayman W. El-Hattab19,
- Mohammed A.M. Saleh20,
- Stéphane Beziéau21,
- Benjamin Cogné21,
- Bertrand Isidor21,22,
- Sébastien Küry21,
- James R. Lupski16,
- Richard M. Myers3,
- Gregory M. Cooper3,* and
- Kerstin Kutsche1,*
- 1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
- 2Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
- 3HudsonAlpha Institute for Biotechnology, Huntsville, AL USA
- 4Department of Genetics, University of Alabama at Birmingham, AL USA
- 5University Medical Center Hamburg-Eppendorf, Bioinformatics Service Facility, Hamburg, Germany
- 6Center for Bioinformatics, University of Hamburg, Hamburg, Germany
- 7Heinrich-Pette-Institute, Leibniz-Institute for Experimental Virology, Virus Genomics, Hamburg, Germany
- 8Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India
- 9Department of Pediatrics, McMaster University Medical Center, Hamilton, Ontario, L8N 3Z5, Canada
- 10Department of Pediatrics, University of California, San Diego, CA 92123, USA
- 11Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, CA 92123, USA
- 12Department of Neurology, University of Alabama at Birmingham, Birmingham, AL USA
- 13Department of Genetics, University of Alabama at Birmingham, Birmingham, AL USA
- 14Department of Pediatrics and Medicine, Columbia University, New York NY 10032, USA
- 15GeneDx, Gaithersburg, MD 20877, USA
- 16Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
- 17Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
- 18Cook Children’s Genetic Clinic, Fort Worth, Texas, USA
- 19Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
- 20Section of Medical Genetics, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
- 21CHU Nantes, Service de Génétique Médicale, Nantes CEDEX 1, France
- 22INSERM, UMR-S 957, Nantes, France
- ↵*Corresponding authors
: Kerstin Kutsche, PhD, Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany, phone: +49-40-741054597, email: kkutsche{at}uke.de, Gregory M. Cooper, PhD, HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA, phone: 256-327-9490, email: gcooper{at}hudsonalpha.org, Katta Mohan Girisha, MD, Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal-576104, India, phone: +91-820-2923149, email: girish.katta{at}manipal.edu
↵23 These authors contributed equally to this work.