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Publications

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]
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Source URL: http://brain.ucsf.edu/publications/publications

Links
[1] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Brain-2014-Edwards-brain-awt358.pdf
[2] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Abberrant.pdf
[3] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/nature12439.pdf
[4] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Connectome.pdf
[5] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/C12orf57.pdf
[6] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/QTL%20BTBR.pdf
[7] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/10.1007_s10803-012-1653-2.pdf
[8] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/DISC1_0.pdf
[9] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/DTI%20Aicardi.pdf
[10] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Agenesis%20of%20the%20corpus%20callosum%2C%20Genetic%2C%20Developmental%2C%20and%20Functional.pdf
[11] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Genetic%20Microarray.pdf
[12] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/CC%20Development%20and%20Cognitive.pdf
[13] https://www.nature.com/ng/journal/v49/n4/pdf/ng.3794.pdf
[14] http://ac.els-cdn.com/S0002929714003838/1-s2.0-S0002929714003838-main.pdf?_tid=b5b1115a-4577-11e7-b763-00000aab0f02&acdnat=1496176791_59b2cc2c88850466446060934c402eda
[15] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082922/pdf/pone.0165401.pdf
[16] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/RERE%20Paper.pdf
[17] http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.37820/epdf
[18] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911/pdf/NG2015000323.pdf
[19] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/PIEZ02.pdf
[20] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/EPGP%20Race.pdf
[21] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/LGS%20Unknown%20Cause.pdf
[22] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/J%20Med%20Genet-2012-Zufferey-660-8.pdf
[23] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/1-s2.0-S0896627312001754-main_0.pdf
[24] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Distinguishing%203%20classes%20of%20corpus%20callosal%20abnormalities%20in%20consanguineous%20families.pdf
[25] http://dev.brain.ucsf.edu/sites/dev.brain.ucsf.edu/files/DISC1.pdf
[26] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Neurology-2011-Michelson-1629-35.pdf
[27] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Novel%20TMEM67%20Mutations%20and%20Genotype-Phenotype%20Correlates%20in%20Meckelin-related%20Ciliopathies.pdf
[28] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/MicroWM.pdf
[29] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Identification%20of%20genomic%20loci%20contributing%20to%20agenesis%20of%20the%20corpus%20callosum.pdf
[30] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Agenesis%20of%20the%20Corpus%20Callosum-An%20MR%20Imaging%20Analysis%20of%20Associated%20Abnormalities.pdf
[31] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Diffusion%20Abnormalities%20and%20Reduced%20Volume%20of%20the%20Ventral%20Cingulum%20Bundle%20in%20Agenesis%20of%20the%20Corpus%20Callosum-%20A%203T%20Imaging%20Study.pdf
[32] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Variability%20of%20Homotopic%20and%20Heterotopic%20Callosal%20Connectivity%20in%20Partial%20Agenesis%20of%20Corpus%20Callosum.pdf
[33] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Expanding%20CEP290%20Mutational%20Spectrum%20in%20Ciliopathies.pdf
[34] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/The%20Importance%20of%20Metabolic%20Testing%20in%20Evaluation%20of%20Intellectual%20Disability.pdf
[35] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Agenesis%20of%20the%20Corpus%20Callosum%20in%20California%201983-2003.pdf
[36] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Dilated%20Perivascular%20Spaces.pdf
[37] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Marco%202008%20ARHGEF9%20disruption%20in%20female%20patient.pdf
[38] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Agenesis%20of%20the%20Corpus%20Callosum%2C%20Optic%20Coloboma%2C%20Intractible%20Seizures.pdf
[39] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/CEP290%20Mutations%20are%20Frequently%20Identified.pdf
[40] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/NFIA%20Haploinsufficiency%20is%20Associated%20with%20a%20CNS%20Malformation.pdf
[41] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Mapping%20of%20Deletion%20and%20Translocation%20Breakpoints%20in%201q44.pdf
[42] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Mutation%20Analysis%20of%20the%20FRAS1%20Gene.pdf
[43] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Anomalies%20of%20the%20Corpus%20Callosum.pdf
[44] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Marinesco-Sjogren%20Syndrom%20in%20a%20Male.pdf
[45] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/T1hyperintensityinpulvinar.pdf
[46] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Periventricular%20heterotopia%20associated%20with%20chromosome%205p%20anomalies.pdf
[47] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Identification%20of%20a%20Monogenic%20Locus%20Causing%20Juvenile%20Audiogenic%20Seizures%20in%20Mice.pdf
[48] http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Mapping%20of%20unconventional%20myosins%20in%20mouse%20and%20human..pdf