Selected Publications

 

• Clinical, genetic, and imaging findings identify new causes for corpus callosum development syndromes.  [1]

• Abberrant White Matter Microstructure in Children with 16p11.2 Deletions [2]

• De novo mutation in the classic epileptic encephalopathies [3]

• The structural connectome of the human brain in agenesis of the corpus callosum [4].

• Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia. [5]

• Quantitative Trait loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T(+) tf/J Mouse Model of Autism.  [6]

• Autism traits in Individuals with agenesis of the corpus callosum. [7]

• Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. [8] 

• Diffusion Tensor Imaging of Aicardi Syndrome. [9]

• Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. [10]

• Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.  [11]

• The role of corpus callosum development in functional connectivity and cognitive processing.  [12]

 

2017

• Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. [13]

• De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies [14]

2016

• Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta). [15]

• De Novo Mutations in RERE Cause a Genetic Syndrome Whose Features Overlap Those  [16]

• 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. [17]

 

2015

• Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss [18]

 

2014

• Abberrant White Matter Microstructure in Children with 16p11.2 Deletions [2]

• Mutations in PIEZ02 Cause Gordon Syndrom, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 [19]

• Clinical, genetic, and imaging findings identify new causes for corpus calloscum development syndromes.  [1]

• Racial and ethnic differences in epilepsy classificaton among probands in the Epilepsy Phenome/Genome Project (EPGP).  [20]

• Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project.  [21]

2013

• Genetic Testing for Neurodevelopmental Disorders [In press]

• De novo mutation in the classic epileptic encephalopathies [3]

• The structural connectome of the human brain in agenesis of the corpus callosum [4].

• Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia. [5]

• Quantitative Trait loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T(+) tf/J Mouse Model of Autism.  [6]

2012

• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.  [22]

• The role of corpus callosum development in functional connectivity and cognitive processing.  [12]

• Autism traits in Individuals with agenesis of the corpus callosum. [7]

• Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.  [23]

2011

• Distinguishing 3 classes of corpus callosum abnormalities in consanguineous families. [24]

• Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.  [25]

• 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. [26]

2010

• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. [27]

• Microstructural Correlations of White Matter Tracts in the Human Brain.  [28]

• Diffusion Tensor Imaging of Aicardi Syndrome. [9]

• Identification of genomic loci contributing to agenesis of the corpus callosum. [29]

2009

• Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.  [30]

• Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. [31]

• Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study.  [32]

• Expanding CEP290 mutational spectrum in ciliopathies.  [33]

2008

• The Importance of Metabolic Testing in the Evaluation of Intellectual Disability. [34]

• Agenesis of the corpus callosum in California 1983-2003: a population-based study. [35]

• Dilated perivascular spaces: An informative radiologic finding in Sanfilippo syndrome type A.  [36]

• Hematopoeitic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. [37]

2007

• ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. [37]

• Agenesis of the Corpus Callosum, Optic Coloboma, Intractable Seizures, Craniofacial and Skeletal Dysmorphisms: an autosomal recessive disorder similar to Temtamy Syndrome. [38] 

• CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders [39].

• Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. [10]

• NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. [40]

• Deletion and translocation breakpoint mapping in 1q44 implicates disruption of the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. [41]

2006

• Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.  [42]

• Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. [43]

2005

• Marinesco-Sjogren syndrome in a male with mild dysmorphism [44].

• Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.  [11]

2003

• T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. [45]

• The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. [46]

• Periventricular heterotopia associated with chromosome 5p anomalies. [46]

2002

• Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice. [47]

1996

• Mapping of unconventional myosins in mouse and human. [48]