Publications
Selected Publications
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Clinical, genetic, and imaging findings identify new causes for corpus callosum development syndromes. [1]
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Abberrant White Matter Microstructure in Children with 16p11.2 Deletions [2]
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De novo mutation in the classic epileptic encephalopathies [3]
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The structural connectome of the human brain in agenesis of the corpus callosum [4].
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Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia. [5]
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Quantitative Trait loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T(+) tf/J Mouse Model of Autism. [6]
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Autism traits in Individuals with agenesis of the corpus callosum. [7]
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. [8]
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Diffusion Tensor Imaging of Aicardi Syndrome. [9]
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Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. [10]
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Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. [11]
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The role of corpus callosum development in functional connectivity and cognitive processing. [12]
2017
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. [13]
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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies [14]
2016
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Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta). [15]
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De Novo Mutations in RERE Cause a Genetic Syndrome Whose Features Overlap Those [16]
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16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. [17]
2015
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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss [18]
2014
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Abberrant White Matter Microstructure in Children with 16p11.2 Deletions [2]
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Mutations in PIEZ02 Cause Gordon Syndrom, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 [19]
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Clinical, genetic, and imaging findings identify new causes for corpus calloscum development syndromes. [1]
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Racial and ethnic differences in epilepsy classificaton among probands in the Epilepsy Phenome/Genome Project (EPGP). [20]
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Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. [21]
2013
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Genetic Testing for Neurodevelopmental Disorders [In press]
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De novo mutation in the classic epileptic encephalopathies [3]
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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
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. [22]
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The role of corpus callosum development in functional connectivity and cognitive processing. [12]
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Autism traits in Individuals with agenesis of the corpus callosum. [7]
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Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. [23]
2011
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Distinguishing 3 classes of corpus callosum abnormalities in consanguineous families. [24]
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. [25]
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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
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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. [27]
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Microstructural Correlations of White Matter Tracts in the Human Brain. [28]
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Diffusion Tensor Imaging of Aicardi Syndrome. [9]
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Identification of genomic loci contributing to agenesis of the corpus callosum. [29]
2009
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Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. [30]
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Diffusion abnormalities and reduced volume of the ventral cingulum bundle in agenesis of the corpus callosum: a 3T imaging study. [31]
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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]
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Expanding CEP290 mutational spectrum in ciliopathies. [33]
2008
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The Importance of Metabolic Testing in the Evaluation of Intellectual Disability. [34]
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Agenesis of the corpus callosum in California 1983-2003: a population-based study. [35]
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Dilated perivascular spaces: An informative radiologic finding in Sanfilippo syndrome type A. [36]
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Hematopoeitic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy. [37]
2007
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ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. [37]
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Agenesis of the Corpus Callosum, Optic Coloboma, Intractable Seizures, Craniofacial and Skeletal Dysmorphisms: an autosomal recessive disorder similar to Temtamy Syndrome. [38]
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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders [39].
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Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. [10]
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NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. [40]
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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
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Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. [42]
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Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations. [43]
2005
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Marinesco-Sjogren syndrome in a male with mild dysmorphism [44].
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Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. [11]
2003
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T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. [45]
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The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. [46]
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Periventricular heterotopia associated with chromosome 5p anomalies. [46]