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.