SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss

SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss Article

Web of Science: 000388431500046

International Collaboration

Monaghan, Kristin G.; Tanaka, Akemi J.; Cho, Megan T.; Milian, Francisca; Juusola, Jane; Retterer, Kyle; Joshi, Charuta; Niyazov, Dmitriy; Garnica, Adolfo; Gratz, Edward; Deardorff, Matthew; Wilkins, Alisha; Ortiz-Gonzalez, Xilma; Mathews, Katherine; Panzer, Karin; Brilstra, Eva; van Gassen, Koen L. I.; Volker-Touw, Catharina M. L.; van Binsbergen, Ellen; Sobreira, Nara; Hamosh, Ada; McKnight, Dianalee; Chung, Wendy K.