Publications
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol 7, 610-627 (2020).
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9, 42 (2016).
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest 126, 762-78 (2016).