Elliott H Sherr

Elliott H Sherr

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Elliott H Sherr

Elliott H Sherr

Publications by authors named "Elliott H Sherr"

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Cerebrospinal fluid vasopressin and symptom severity in children with autism.

Ann Neurol 2018 10 26;84(4):611-615. Epub 2018 Sep 26.

Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA.

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http://dx.doi.org/10.1002/ana.25314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719782PMC
October 2018

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatr Neurol 2018 10 7;87:48-56. Epub 2018 May 7.

Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183034
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.012DOI Listing
October 2018

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Biol Psychiatry 2018 08 27;84(4):253-264. Epub 2018 Mar 27.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Lausanne, Switzerland; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Quebec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2018.02.1176DOI Listing
August 2018

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

BMC Med Genomics 2018 05 25;11(1):50. Epub 2018 May 25.

Department of Neurology, University of California, San Francisco, 675 Nelson Rising Lane, San Francisco, CA, 9415, USA.

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http://dx.doi.org/10.1186/s12920-018-0362-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970458PMC
May 2018

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.

Radiology 2018 01 8;286(1):217-226. Epub 2017 Aug 8.

From the Departments of Radiology (J.P.O., O.A.G., S.S.N., P.M.) and Neurology (P.B., N.P., T.T., E.H.S.), University of California, San Francisco, 675 Nelson Rising Lane, San Francisco, CA 94158; Department of Biostatistics, Columbia University, New York, NY (Q.C., J.L., D.D.); Department of Medicine and Pediatrics, Baylor School of Medicine, Houston, Tex (J.V.H.); Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (J.I.B., T.P.R.); and Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Charlestown, Mass (R.B.).

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http://pubs.rsna.org/doi/10.1148/radiol.2017162934
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http://dx.doi.org/10.1148/radiol.2017162934DOI Listing
January 2018

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

Sci Rep 2018 01 19;8(1):1274. Epub 2018 Jan 19.

University of California-San Francisco, Department of Radiology & Biomedical Imaging, 513 Parnassus Avenue, S362., San Francisco, CA, 94143, USA.

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http://dx.doi.org/10.1038/s41598-018-19751-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775320PMC
January 2018

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

J Neurogenet 2015 4;29(4):174-7. Epub 2016 Jan 4.

b Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.

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http://dx.doi.org/10.3109/01677063.2015.1088847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813514PMC
October 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Cell Rep 2016 10;17(3):735-747

Queensland Brain Institute, The University of Queensland, St. Lucia, QLD 4072, Australia; The School of Biomedical Sciences, The University of Queensland, St. Lucia, QLD 4072, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.09.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094913PMC
October 2016

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.

Hum Brain Mapp 2016 08 24;37(8):2833-48. Epub 2016 May 24.

Department of Radiology and Biomedical Imaging, University of California, San Francisco, 185 Berry Street, San Francisco, California, 94107.

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http://dx.doi.org/10.1002/hbm.23211DOI Listing
August 2016

White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation.

PLoS One 2015 26;10(6):e0123656. Epub 2015 Jun 26.

Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California, United States of America; Program in Bioengineering, University of California San Francisco, San Francisco, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123656PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482659PMC
April 2016

Abnormal auditory and language pathways in children with 16p11.2 deletion.

Neuroimage Clin 2015 1;9:50-7. Epub 2015 Aug 1.

Department of Radiology, Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA ; Department of Radiology, Perelman School of Medicine University of Pennsylvania, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.nicl.2015.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543079PMC
April 2016

Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy.

Neurology 2016 Jan 18;86(1):15-6. Epub 2015 Nov 18.

From the Department of Neurology, University of California San Francisco.

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http://dx.doi.org/10.1212/WNL.0000000000002227DOI Listing
January 2016

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism.

Mol Autism 2014 22;5:57. Epub 2014 Dec 22.

Department of Neurology, University of California, 675 Nelson Rising Way, Suite 214B, San Francisco, CA 94158 USA.

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http://dx.doi.org/10.1186/2040-2392-5-57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396809PMC
April 2015

Epileptic encephalopathies: new genes and new pathways.

Neurotherapeutics 2014 Oct;11(4):796-806

Departments of Neurology and Pediatrics, University of California, San Francisco, CA, USA,

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http://dx.doi.org/10.1007/s13311-014-0301-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391391PMC
October 2014

Opposing brain differences in 16p11.2 deletion and duplication carriers.

J Neurosci 2014 Aug;34(34):11199-211

Harvard University, Department of Psychology and Center for Brain Science, Cambridge, Massachusetts 02138, Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Charlestown, Massachusetts 02129,

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http://dx.doi.org/10.1523/JNEUROSCI.1366-14.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4138332PMC
August 2014

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.

Am J Med Genet A 2014 Jul 16;164A(7):1744-9. Epub 2014 May 16.

Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.36450DOI Listing
July 2014

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Brain 2014 Jun 28;137(Pt 6):1579-613. Epub 2014 Jan 28.

1 Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia5 School of Biomedical Sciences, The University of Queensland, Brisbane, 4072, Australia

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http://dx.doi.org/10.1093/brain/awt358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032094PMC
June 2014

Aberrant white matter microstructure in children with 16p11.2 deletions.

J Neurosci 2014 Apr;34(18):6214-23

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.

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http://dx.doi.org/10.1523/JNEUROSCI.4495-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608115PMC
April 2014

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Ann Neurol 2013 Aug;74(2):164-70

Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1002/ana.23950DOI Listing
August 2013

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Am J Med Genet A 2013 Jul 23;161A(7):1523-30. Epub 2013 May 23.

Departments of Neurology, Pediatrics, and Biomedical Genetics, Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1002/ajmg.a.35969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850PMC
July 2013

The structural connectome of the human brain in agenesis of the corpus callosum.

Neuroimage 2013 Apr 23;70:340-55. Epub 2012 Dec 23.

Department of Radiology & Biomedical Imaging, University of California, San Francisco, CA 94107, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2012.12.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127170PMC
April 2013

Children with autism show reduced somatosensory response: an MEG study.

Autism Res 2012 Oct 29;5(5):340-51. Epub 2012 Aug 29.

Department of Neurology, Pediatrics, and Psychiatry, University of California, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1002/aur.1247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3474892PMC
October 2012

Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum.

J Int Neuropsychol Soc 2012 May 6;18(3):521-9. Epub 2012 Mar 6.

Department of Neurology, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1017/S1355617712000045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605885PMC
May 2012

Dual-mode modulation of Smad signaling by Smad-interacting protein Sip1 is required for myelination in the central nervous system.

Neuron 2012 Feb;73(4):713-28

Department of Developmental Biology and Kent Waldrep Foundation Center for Basic Neuroscience Research on Nerve Growth and Regeneration, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.12.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293152PMC
February 2012

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

BMC Med Genet 2011 Dec 28;12:172. Epub 2011 Dec 28.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143-0748 USA.

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http://dx.doi.org/10.1186/1471-2350-12-172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3262754PMC
December 2011

Laterality of brain and ocular lesions in Aicardi syndrome.

Pediatr Neurol 2011 Sep;45(3):149-54

Department of Ophthalmology, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153732PMC
September 2011

Identification of genomic loci contributing to agenesis of the corpus callosum.

Am J Med Genet A 2010 Sep;152A(9):2145-59

University of Manchester, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, Hathersage Road, Manchester, M13 9WL, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.33558DOI Listing
September 2010

Diffusion tensor imaging of Aicardi syndrome.

Pediatr Neurol 2010 Aug;43(2):87-91

Department of Neurology, University of California, San Francisco, San Francisco, California 94143-0114, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3116113PMC
August 2010

Microstructural correlations of white matter tracts in the human brain.

Neuroimage 2010 Jun 4;51(2):531-41. Epub 2010 Mar 4.

Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA 94143-0628, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2010.02.072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856800PMC
June 2010

Introduction.

Authors:
Elliott H Sherr

Semin Pediatr Neurol 2009 Sep;16(3):99-100

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http://dx.doi.org/10.1016/j.spen.2009.07.004DOI Listing
September 2009

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

Am J Med Genet A 2008 Oct;146A(19):2495-500

Department of Neurology, University of California, San Francisco, California 94143-0137, USA.

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http://brain.ucsf.edu/sites/brain.ucsf.edu/files/Agenesis%20
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http://doi.wiley.com/10.1002/ajmg.a.32418
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http://dx.doi.org/10.1002/ajmg.a.32418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2574703PMC
October 2008

Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A.

Pediatr Neurol 2008 May;38(5):363-6

Department of Radiology, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.01.009DOI Listing
May 2008

Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy.

Nat Clin Pract Neurol 2008 Mar 22;4(3):130-1. Epub 2008 Jan 22.

Department of Neurology, University of California, San Francisco, 350 Parnassus Avenue, Suite 609, San Francisco, CA 94143-0137, USA.

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http://dx.doi.org/10.1038/ncpneuro0729DOI Listing
March 2008

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Am J Hum Genet 2007 Aug 13;81(2):292-303. Epub 2007 Jun 13.

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.

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http://dx.doi.org/10.1086/519999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950798PMC
August 2007

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

Nat Rev Neurosci 2007 Apr;8(4):287-99

California Institute of Technology, MC 228-77 Pasadena, California 91125, USA.

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http://dx.doi.org/10.1038/nrn2107DOI Listing
April 2007

Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations.

AJR Am J Roentgenol 2006 Nov;187(5):1343-8

Department of Radiology, University of California at San Francisco, 505 Parnassus Ave., L358, San Francisco, CA 94143-0628, USA.

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http://www.ajronline.org/doi/10.2214/AJR.05.0146
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http://dx.doi.org/10.2214/AJR.05.0146DOI Listing
November 2006

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

Authors:
Elliott H Sherr

Curr Opin Pediatr 2003 Dec;15(6):567-71

Departments of Neurology and Pediatrics, University of California, San Francisco, California 94143-0748, USA.

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http://dx.doi.org/10.1097/00008480-200312000-00004DOI Listing
December 2003

T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.

AJNR Am J Neuroradiol 2003 May;24(5):916-21

Neuroradiology Section, Department of Radiology, University of California, San Francisco, USA.

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May 2003

Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice.

J Neurosci 2002 Dec;22(23):10088-93

Department of Physiology, University of California at San Francisco, School of Medicine, San Francisco, California 94143-0444, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758732PMC
December 2002