Elliott H Sherr

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes
    Elliott H Sherr
    Departments of Neurology and Pediatrics, University of California, San Francisco, California 94143 0748, USA
    Curr Opin Pediatr 15:567-71. 2003
  2. ncbi request reprint Aberrant white matter microstructure in children with 16p11.2 deletions
    Julia P Owen
    Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California 94107, Program in Bioengineering, Department of Neurology, University of California, San Francisco, San Francisco, California 94158, Department of Radiology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, Simons Foundation, New York, New York 10010, Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, and Center for Brain Science, Harvard University, Cambridge, Massachusetts 02138
    J Neurosci 34:6214-23. 2014
  3. pmc Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum
    Julia P Owen
    1 Department of Radiology and Biomedical Imaging, University of California, San Francisco, California
    Brain Connect 3:547-62. 2013
  4. pmc Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
    Nelson Lopez Jimenez
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
    BMC Med Genet 12:172. 2011
  5. ncbi request reprint Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations
    Steven W Hetts
    Department of Radiology, University of California at San Francisco, 505 Parnassus Ave, L358, San Francisco, CA 94143 0628, USA
    AJR Am J Roentgenol 187:1343-8. 2006
  6. pmc VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans
    Anne M Slavotinek
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
    Hum Mutat 33:364-8. 2012
  7. ncbi request reprint De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome
    Sanjin Tunovic
    Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California
    Am J Med Genet A 164:1744-9. 2014
  8. pmc Test-retest reliability of computational network measurements derived from the structural connectome of the human brain
    Julia P Owen
    Department of Radiology and Biomedical Imaging, University of California, San Francisco, California 94107, USA
    Brain Connect 3:160-76. 2013
  9. pmc Autism traits in individuals with agenesis of the corpus callosum
    Yolanda C Lau
    School of Medicine, University of California, San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    J Autism Dev Disord 43:1106-18. 2013
  10. pmc Children with autism show reduced somatosensory response: an MEG study
    Elysa J Marco
    Department of Neurology, Pediatrics, and Psychiatry, University of California, San Francisco, CA 94143, USA
    Autism Res 5:340-51. 2012

Collaborators

Detail Information

Publications18

  1. ncbi request reprint The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes
    Elliott H Sherr
    Departments of Neurology and Pediatrics, University of California, San Francisco, California 94143 0748, USA
    Curr Opin Pediatr 15:567-71. 2003
    ..Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients...
  2. ncbi request reprint Aberrant white matter microstructure in children with 16p11.2 deletions
    Julia P Owen
    Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California 94107, Program in Bioengineering, Department of Neurology, University of California, San Francisco, San Francisco, California 94158, Department of Radiology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, Simons Foundation, New York, New York 10010, Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York 10032, and Center for Brain Science, Harvard University, Cambridge, Massachusetts 02138
    J Neurosci 34:6214-23. 2014
    ..These findings suggest that deletion of the 16p11.2 locus is associated with a unique widespread pattern of aberrant white matter microstructure that may underlie the impaired cognition characteristic of this CNV. ..
  3. pmc Resting-state networks and the functional connectome of the human brain in agenesis of the corpus callosum
    Julia P Owen
    1 Department of Radiology and Biomedical Imaging, University of California, San Francisco, California
    Brain Connect 3:547-62. 2013
    ....
  4. pmc Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
    Nelson Lopez Jimenez
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
    BMC Med Genet 12:172. 2011
    ..We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M...
  5. ncbi request reprint Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations
    Steven W Hetts
    Department of Radiology, University of California at San Francisco, 505 Parnassus Ave, L358, San Francisco, CA 94143 0628, USA
    AJR Am J Roentgenol 187:1343-8. 2006
    ..We sought to categorize the structural brain anomalies associated with abnormalities of the corpus callosum and anterior and hippocampal commissures in a large cohort...
  6. pmc VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans
    Anne M Slavotinek
    Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143 0748, USA
    Hum Mutat 33:364-8. 2012
    ..We did not identify any mutations in VAX2. This is the first description of a phenotype associated with a VAX1 mutation in humans and establishes VAX1 as a new causative gene for A/M...
  7. ncbi request reprint De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome
    Sanjin Tunovic
    Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California
    Am J Med Genet A 164:1744-9. 2014
    ..We describe this child as the first report of a deleterious sequence variant in KDM1A and hypothesize that his phenotype resulted from the combined effect of both mutations. © 2014 Wiley Periodicals, Inc. ..
  8. pmc Test-retest reliability of computational network measurements derived from the structural connectome of the human brain
    Julia P Owen
    Department of Radiology and Biomedical Imaging, University of California, San Francisco, California 94107, USA
    Brain Connect 3:160-76. 2013
    ....
  9. pmc Autism traits in individuals with agenesis of the corpus callosum
    Yolanda C Lau
    School of Medicine, University of California, San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
    J Autism Dev Disord 43:1106-18. 2013
    ..Individuals with AgCC should be screened for ASD and disorders of the corpus callosum should be considered in autism diagnostic evaluations as well...
  10. pmc Children with autism show reduced somatosensory response: an MEG study
    Elysa J Marco
    Department of Neurology, Pediatrics, and Psychiatry, University of California, San Francisco, CA 94143, USA
    Autism Res 5:340-51. 2012
    ..This study suggests that children with autism have early differences in somatosensory processing, which likely influence later stages of cortical activity from integration to motor response...
  11. doi request reprint Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A
    Simay Kara
    Department of Radiology, University of California, San Francisco, California, USA
    Pediatr Neurol 38:363-6. 2008
    ..This case calls attention to the variety of appearances possible with magnetic resonance imaging in Sanfilippo syndrome type A...
  12. ncbi request reprint Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome
    Jiang Li
    Department of Neurology, University of California, San Francisco, California 94143, USA
    Am J Med Genet A 143:1900-5. 2007
    ..This case presents many features similar to Temtamy syndrome and will help in establishing the spectrum of this disorder...
  13. pmc Agenesis of the corpus callosum in California 1983-2003: a population-based study
    Hannah C Glass
    Department of Neurology, University of California, San Francisco, California 94143 0137, USA
    Am J Med Genet A 146:2495-500. 2008
    ....
  14. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco Brancati
    IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
    Am J Hum Genet 81:104-13. 2007
    ..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
  15. pmc Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
    Elena Boland
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, and Centre for Molecular Medicine, The University of Manchester, M13 0JH, UK
    Am J Hum Genet 81:292-303. 2007
    ..AKT3 represents an excellent candidate for developmental human MIC and ACC, and we suggest that haploinsufficiency causes both postnatal MIC and ACC...
  16. pmc NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects
    Weining Lu
    Genetics Division, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 3:e80. 2007
    ....
  17. ncbi request reprint Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity
    Lynn K Paul
    California Institute of Technology, MC 228 77 Pasadena, California 91125, USA
    Nat Rev Neurosci 8:287-99. 2007
    ..The study of AgCC could provide insight into the integrated cerebral functioning of healthy brains, and may offer a model for understanding certain psychiatric illnesses, such as schizophrenia and autism...
  18. doi request reprint The importance of metabolic testing in the evaluation of intellectual disability
    Sabine Mueller
    Ann Neurol 64:113-4. 2008