DLG4-related synaptopathy: a new rare brain disorder. Genet Med 23, 888-899 (2021).
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020).
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron 106, 237-245.e8 (2020).
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet 105, 689-705 (2019).
Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet 105, 606-615 (2019).
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
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).
Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 178, 432-439 (2018).
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol 73, 836-845 (2016).
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet 98, 579-587 (2016).
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 4, e06602 (2015).
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell 159, 200-214 (2014).
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet 92, 468-74 (2013).