Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Almundher Al-Maawali, Brenda J. Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida^*, Joan M. Stoler