Selected Publications Clinical, genetic, and imaging findings identify new causes for corpus callosum development syndromes DDX3X-Related Neurodevelopmental Disorder Abberrant White Matter Microstructure in Children with 16p11.2 Deletions De novo mutation in the classic epileptic encephalopathies The structural connectome of the human brain in agenesis of the corpus callosum. Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia. Quantitative Trait loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T(+) tf/J Mouse Model of Autism. Autism traits in Individuals with agenesis of the corpus callosum. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Diffusion Tensor Imaging of Aicardi Syndrome. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. The role of corpus callosum development in functional connectivity and cognitive processing. 2021 Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder 2020 Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum DDX3X-Related Neurodevelopmental Disorder Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment De novo variants in SUPT16H cause neurodevelopmetal disorders associated with corpus callosum abnormalities Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development 2019 RERE-related Disorders 2018 Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation 2017 Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies 2016 Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta) De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with proximal 1p36 Deletions 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. 2015 Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss 2014 Abberrant White Matter Microstructure in Children with 16p11.2 Deletions Mutations in PIEZ02 Cause Gordon Syndrom, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Clinical, genetic, and imaging findings identify new causes for corpus calloscum development syndromes. Racial and ethnic differences in epilepsy classificaton among probands in the Epilepsy Phenome/Genome Project (EPGP). Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. 2013 Neurodevelopmental Disorders and Genetic Testing: Current Approaches and Future Advances De novo mutation in the classic epileptic encephalopathies The structural connectome of the human brain in agenesis of the corpus callosum. Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia. Quantitative Trait loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T(+) tf/J Mouse Model of Autism. 2012 A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. The role of corpus callosum development in functional connectivity and cognitive processing. Autism traits in Individuals with agenesis of the corpus callosum. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. 2011 Distinguishing 3 classes of corpus callosum abnormalities in consanguineous families. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Evidence report: Genetic and metabolic testing on children with global deveopmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Microstructural Correlations of White Matter Tracts in the Human Brain. Diffusion Tensor Imaging of Aicardi Syndrome. Identification of genomic loci contributing to agenesis of the corpus callosum. 2009 Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study. Expanding CEP290 mutational spectrum in ciliopathies. 2008 The Importance of Metabolic Testing in the Evaluation of Intellectual Disability. Agenesis of the corpus callosum in California 1983-2003: a population-based study. Dilated perivascular spaces: An informative radiologic finding in Sanfilippo syndrome type A. Hematopoeitic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. 2007 ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. Agenesis of the Corpus Callosum, Optic Coloboma, Intractable Seizures, Craniofacial and Skeletal Dysmorphisms: an autosomal recessive disorder similar to Temtamy Syndrome. CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. Deletion and translocation breakpoint mapping in 1q44 implicates disruption of the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. 2006 Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. 2005 Marinesco-Sjogren syndrome in a male with mild dysmorphism. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. 2003 T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Periventricular heterotopia associated with chromosome 5p anomalies. 2002 Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. 1996 Mapping of unconventional myosins in mouse and human.