Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani(Baylor College of Medicine), Fan Xia(Baylor Genetics), Tina Barbaro‐Dieber(Cook Children's Medical Center), Yaping Yang(Baylor College of Medicine), Kory Keller(Laboratory of Molecular Genetics), Mary K. Kukolich(Cook Children's Health Care System), Meng C. Wang(Howard Hughes Medical Institute), Klaas J. Wierenga(Mayo Clinic in Florida), Matthew Pastore(Nationwide Children's Hospital), Fabio Fernandez(Baylor College of Medicine), Mahshid S. Azamian(Baylor College of Medicine), Anne Chun‐Hui Tsai(University of Oklahoma Health Sciences Center), Chester Brown(Carle Foundation Hospital), Christian P. Schaaf(University of Cologne), Wenmiao Zhu(Baylor College of Medicine), Lindsay C. Burrage(Baylor College of Medicine), Gabriela Purcarin(University of Oklahoma Health Sciences Center), Matthew N. Bainbridge(Baylor College of Medicine), Erin Cooney(Baylor College of Medicine), Eric Boerwinkle(Training Programs in Epidemiology and Public Health Interventions Network), Mahim Jain(Kennedy Krieger Institute), Marianne McGuire(Baylor College of Medicine), Angus A. Wilfong(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), Pilar Magoulas(Baylor College of Medicine), Zhiyv Niu(Mayo Clinic), Areeg El‐Gharbawy(Duke Medical Center), Arthur L. Beaudet(Lunar and Planetary Institute), Dennis Bartholomew(Nationwide Children's Hospital), Elise G. Austin(Baylor College of Medicine), Jing Zhang(Northwest Normal University), Christine M. Eng(Baylor College of Medicine), Chin-To Fong(University of Rochester Medicine), Donna M. Muzny(Baylor College of Medicine), Richard Person(GenVec), James R. Lupski(Baylor College of Medicine), William J. Craigen(Baylor College of Medicine), Timothy Lotze(Baylor College of Medicine)
The American Journal of Human Genetics
October 16, 2014
Cited by 114


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