Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

Akemi Tanaka(Columbia University Irving Medical Center), Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi(University of Iowa Stead Family Children’s Hospital), Dmitriy Niyazov(Ochsner Health System), Adolfo D. Garnica(Arkansas Children's Hospital), Edward S. Gratz(Gratz College), Matthew A. Deardorff(Children's Hospital of Philadelphia), Alisha Wilkins(Children's Hospital of Philadelphia), Xilma R. Ortiz‐González(Children's Hospital of Philadelphia), Katherine D. Mathews(University of Iowa Stead Family Children’s Hospital), Karin Panzer(University of Iowa Stead Family Children’s Hospital), Eva H. Brilstra(University Medical Center Utrecht), Koen L.I. van Gassen(University Medical Center Utrecht), Catharina M.L. Volker‐Touw(University Medical Center Utrecht), Ellen van Binsbergen(University Medical Center Utrecht), Nara Sobreira(Johns Hopkins University), Ada Hamosh(Johns Hopkins University), Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung(Columbia University Irving Medical Center)
The American Journal of Human Genetics
August 20, 2015
Cited by 159Open Access
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