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History
- May 11, 2018.
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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
- Ashley L. Lennox1,
- Ruiji Jiang2,
- Lindsey Suit2,
- Brieana Fregeau2,
- Charles J. Sheehan1,
- Kimberly A. Aldinger3,
- Ching Moey4,
- Iryna Lobach5,
- Ghayda Mirzaa3,
- Alexandra Afenjar6,
- Dusica Babovic-Vuksanovic7,8,9,
- Stéphane Bézieau10,11,
- Patrick R. Blackburn7,12,13,
- Jens Bunt4,
- Lydie Burglen14,15,
- Perrine Charles16,
- Brian H.Y. Chung17,
- Benjamin Cogné10,11,
- Suzanne DeBrosse18,
- Nataliya Di Donato19,
- Laurence Faivre20,
- Delphine Héron16,
- A. Micheil Innes22,
- Bertrand Isidor10,11,
- Bethany L. Johnson-Kerner2,
- Boris Keren23,
- Amy Kimball24,
- Eric W. Klee7,12,13,25,
- Paul Kuentz26,
- Sébastien Küry10,
- Dominique Martin-Coignard27,
- Cyril Mignot16,
- Noriko Miyake21,
- Caroline Nava23,
- Mathilde Nizon10,11,
- Diana Rodriguez15,28,
- Lot Snijders Blok29,
- Christel Thauvin-Robinet30,
- Julien Thevenon20,
- Marie Vincent10,11,
- Alban Ziegler31,
- William Dobyns3,32,
- Linda J. Richards4,33,
- A. James Barkovich34,
- Stephen N. Floor35,36,
- Debra L. Silver1,37,38,39,* and
- Elliott H. Sherr2,40,*
- 1Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
- 2Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA
- 3Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA 98101, USA
- 4The University of Queensland, Queensland Brain Institute, Brisbane, 4072, Australia
- 5Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA, 94158, USA
- 6APHP, Centre de référence des malformations et maladies congénitales du cervelet Département de génétique et embryologie médicale, Sorbonne Université, GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012 Paris, France
- 7Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
- 8Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA
- 9Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA
- 10CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093, Nantes, CEDEX 1, France
- 11l’institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France
- 12Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA
- 13Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA
- 14Centre de référence des Malformations et maladies congénitales du cervelet and Département de Génétique et embryologie médicales, AP-HP, GHUEP, Hôpital Trousseau 75012 Paris, France
- 15Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet LeucoDystrophies, APHP, Hôpital Armand Trousseau, F-75012 Paris, France
- 16APHP, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau ; Sorbonne Université, GRC “Déficience Intellectuelle et Autisme” Paris, France
- 17Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China
- 18Center for Human Genetics, University Hospitals, Case Medical Center, Cleveland, OH 44195, USA
- 19Institute for Clinical Genetics, TU Dresden, Dresden, Germany
- 20Centre de référence Anomalies du Développement et Syndromes Malformatifs, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France
- 21Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan
- 22Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
- 23APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France
- 24Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA
- 25Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA
- 26UMR-Inserm 1231 GAD, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France
- 27Service de Génétique, Centre hospitalier du Mans, Le Mans, France
- 28APHP, GHUEP, Hôpital Armand Trousseau, Service de Neurologie Pédiatrique, Paris, France
- 29Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands
- 30Centre de référence Déficience Intellectuelle, INSERM UMR 1231 GAD, CHU de Dijon et Université de Bourgogne, Dijon, France
- 31Service de Génétique, CHU d’Angers, Angers, France
- 32Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98101, USA
- 33The University of Queensland, School of Biomedical Sciences, Brisbane, 4072, Australia
- 34Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA
- 35Department of Cell and Tissue Biology, UCSF, San Francisco, CA 94158 USA
- 36Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, 94158 USA
- 37Department of Cell Biology, Duke University Medical Center, Durham, NC 27710 USA
- 38Department of Neurobiology, Duke University Medical Center, Durham, NC 27710 USA
- 39Duke Institute for Brain Sciences, Duke University, Durham, NC 27710 USA
- 40Institute of Human Genetics and Weill Institute for Neurosciences, UCSF, SF CA 94158 USA
- ↵*Correspondence to: debra.silver{at}duke.edu and elliott.sherr{at}ucsf.edu