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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. Am J Hum Genet 102, 309-320 (2018).
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet 105, 689-705 (2019).
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet 103, 1009-1021 (2018).
Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).