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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. doi request reprint The importance of metabolic testing in the evaluation of intellectual disability
    Sabine Mueller
    Ann Neurol 64:113-4. 2008

Collaborators

  • A James Barkovich
  • Adele Schneider
  • Srikantan S Nagarajan
  • John M Neuhaus
  • Gary Shaw
  • Daniel F Schorderet
  • Enrico Bertini
  • E Fazzi
  • S W Hetts
  • R Maas
  • Elysa J Marco
  • Shubha R Phadke
  • W S Brown
  • A M Slavotinek
  • Jiang Li
  • Nelson Lopez Jimenez
  • Sabine Mueller
  • Simay Kara
  • Hannah C Glass
  • Weining Lu
  • Elena Boland
  • Francesco Brancati
  • Lynn K Paul
  • Pratik Mukherjee
  • Tanya Bardakjian
  • Mani Yahyavi
  • Leath Tonkin
  • Jason Flannick
  • Chen Ma
  • Anne Higgins
  • J Michael Tyszka
  • Christopher A Walsh
  • Dominika Zablocka
  • Koenraad Devriendt
  • Shane McKee
  • Paloma Parvex
  • Richard M Gronostajski
  • Benedict Rilliet
  • Hulya Kayserili
  • Lorena Travaglini
  • Graeme C M Black
  • Marc D'Hooghe
  • Elif Y Fenerci
  • Diana J Donovan
  • Chantal Kelly
  • Shilpa Shivakumar
  • Qing Gang Li
  • David H Viskochil
  • Maria Amorini
  • Cynthia C Morton
  • Lihadh Al-Gazali
  • Andrea Kiss
  • Victoria G Woo
  • Melissa M Lees
  • Jill Clayton-Smith
  • Ayesha Ahmad
  • Azra H Ligon
  • Forbes D C Manson
  • Sarah E Marsh
  • Linda J Richards
  • Craig G Campbell
  • Luciana Rigoli
  • Alan L Shanske
  • Stephane Romano
  • Raoul C M Hennekam
  • Bruno Dallapiccola
  • William B Dobyns
  • Qiongchao Xi
  • Giuseppe Barrano
  • Bernard Stuart
  • Annick Turbe-Doan
  • Heather Ferguson
  • Alexander G Bassuk
  • David J Harris
  • Fowzan S Alkuraya
  • James F Gusella
  • Ralph Adolphs
  • David Fitzpatrick
  • Eugen Boltshauser
  • Yanli Fan
  • Stephanie L Bielas
  • Roxana Peters
  • Mari Wakahiro
  • Joseph G Gleeson
  • Petter Stromme
  • Adnan Yuksel
  • Eric A Swanson
  • Fabiola Quintero-Rivera
  • Kathleen J Millen
  • Enza Maria Valente

Detail Information

Publications13

  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. 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...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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
    ....
  9. 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...
  10. doi request reprint The importance of metabolic testing in the evaluation of intellectual disability
    Sabine Mueller
    Ann Neurol 64:113-4. 2008
  11. 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
    ....
  12. 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...
  13. 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...