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- May 15, 2018.
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Author Information
- Paul C. Marcogliese1,24,
- Vandana Shashi2,24,
- Rebecca C. Spillmann2,
- Nicholas Stong3,
- Jill A. Rosenfeld1,
- Mary Kay Koenig4,
- Julián A Martínez-Agosto5,6,7,
- Matthew Herzog5,
- Agnes H. Chen6,8,
- Patricia I. Dickson8,
- Henry J. Lin8,
- Moin U. Vera8,
- Noriko Salamon9,
- Damara Ortiz10,
- Elena Infante10,
- Wouter Steyaert11,
- Bart Dermaut11,
- Bruce Poppe11,
- Hyung-Lok Chung1,
- Zhongyuan Zuo1,
- Pei-Tseng Lee1,
- Oguz Kanca1,
- Fan Xia1,
- Yaping Yang1,
- Edward C. Smith12,
- Joan Jasien12,
- Sujay Kansagra12,
- Gail Spiridigliozzi13,
- Mays El-Dairi14,
- Robert Lark15,
- Kacie Riley2,
- Dwight D. Koeberl2,
- Katie Golden-Grant16,
- Program for Undiagnosed Diseases (UD-PrOZA), Undiagnosed Diseases Network,
- Shinya Yamamoto1,17,18,19,
- Michael F. Wangler1,17,18,
- Ghayda Mirzaa20,21,
- Dimitri Hemelsoet22,
- Brendan Lee1,
- Stanley F. Nelson5,
- David B. Goldstein3,
- Hugo J. Bellen1,17,18,19,23,* and
- Loren D.M. Pena2,**
- 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
- 2Division of Medical Genetics, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
- 3Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, 10032, USA
- 4Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX, 77030, USA
- 5Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, 90095, USA
- 6Department of Pediatrics, David Geffen School of Medicine, University of California-Losy Angeles, Los Angeles, CA, 90095, USA
- 7Department of Child and Adolescent Psychiatry, Resnick Neuropsychiatric Hospital, University of California-Los Angeles, Los Angeles, CA, 90095, USA.
- 8Division of Pediatric Neurology, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA
- 9Department of Radiology, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, 90095 USA
- 10Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, 15224, USA
- 11Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium
- 12Division of Neurology, Department of Pediatrics, Duke Health, Durham, NC, 27710, USA
- 13Department of Psychiatry and Behavioral Sciences, Duke Health, Durham, NC, 27710, USA
- 14Department of Ophthalmology, Duke Health, Durham, NC, 27710, USA
- 15Department of Orthopedic Surgery, Duke Health, Durham, NC, 27710, USA
- 16Division of Genetic Medicine, Seattle Children’s Hospital, Seattle, WA, 98105, USA
- 17Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA
- 18Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, 77030, USA
- 19Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA
- 20Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, 98105, USA
- 21Department of Pediatrics, University of Washington, Seattle, WA, 98105, USA
- 22Department of Neurology, Ghent University Hospital, Ghent, Belgium
- 23Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, 77030, USA
↵24 These authors contributed equally to this work