Christopher A Walsh

Christopher A Walsh

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Christopher A Walsh

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SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL.

J Cell Biol 2019 Jul 13;218(7):2185-2197. Epub 2019 Jun 13.

Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1083/jcb.201803041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605807PMC
July 2019

Rainer W. Guillery and the genetic analysis of brain development.

Eur J Neurosci 2019 Apr 17;49(7):900-908. Epub 2018 Sep 17.

Division of Genetics and Genomics, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.

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http://dx.doi.org/10.1111/ejn.14135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393213PMC
April 2019

Somatic mosaicism and neurodevelopmental disease.

Nat Neurosci 2018 11 22;21(11):1504-1514. Epub 2018 Oct 22.

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.

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http://www.nature.com/articles/s41593-018-0257-3
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http://dx.doi.org/10.1038/s41593-018-0257-3DOI Listing
November 2018

Somatic Mutation in Pediatric Neurological Diseases.

Pediatr Neurol 2018 10 11;87:20-22. Epub 2018 Aug 11.

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, Massachusetts; Broad Institute of MIT and Harvard, Cambridge, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289746PMC
October 2018

The Genetics of Primary Microcephaly.

Annu Rev Genomics Hum Genet 2018 08 23;19:177-200. Epub 2018 May 23.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1146/annurev-genom-083117-021441DOI Listing
August 2018

Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions.

Annu Rev Neurosci 2018 07;41:185-206

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts 02115, USA; email:

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http://dx.doi.org/10.1146/annurev-neuro-080317-062104DOI Listing
July 2018

Making a Notch in the Evolution of the Human Cortex.

Dev Cell 2018 06;45(5):548-550

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15345807183040
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http://dx.doi.org/10.1016/j.devcel.2018.05.015DOI Listing
June 2018

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

Am J Med Genet A 2018 02;176(2):337-350

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.38580DOI Listing
February 2018

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Cell Rep 2017 12;21(13):3754-3766

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.11.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752134PMC
December 2017

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Eur J Med Genet 2017 May 27;60(5):245-249. Epub 2017 Feb 27.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Qatar. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569911PMC
May 2017

Building a lineage from single cells: genetic techniques for cell lineage tracking.

Nat Rev Genet 2017 04 23;18(4):230-244. Epub 2017 Jan 23.

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1038/nrg.2016.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5459401PMC
April 2017

Cerebral cortical neuron diversity and development at single-cell resolution.

Curr Opin Neurobiol 2017 02 23;42:9-16. Epub 2016 Nov 23.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.conb.2016.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316371PMC
February 2017

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.

Neuron 2016 Nov 27;92(4):813-828. Epub 2016 Oct 27.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.09.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5199216PMC
November 2016

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Cell 2016 Oct 22;167(2):341-354.e12. Epub 2016 Sep 22.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674163116
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5063026PMC
http://dx.doi.org/10.1016/j.cell.2016.08.071DOI Listing
October 2016

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.

Cell 2016 Aug;166(5):1147-1162.e15

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.07.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5248659PMC
August 2016

Resolving rates of mutation in the brain using single-neuron genomics.

Elife 2016 Feb 22;5. Epub 2016 Feb 22.

Division of Genetics and Genomics, Manton Center for Orphan Disease, Boston Children's Hospital, Boston, United States.

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http://dx.doi.org/10.7554/eLife.12966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805530PMC
February 2016

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

Neuron 2015 Dec;88(5):910-917

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2015.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672379PMC
December 2015

A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.

Am J Med Genet A 2015 Nov 4;167A(11):2808-16. Epub 2015 Aug 4.

Section of Pediatric Neurology, St. Christopher Hospital for Children's, Drexel University College of Medicine, Philaldelphia.

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http://dx.doi.org/10.1002/ajmg.a.37268DOI Listing
November 2015

Somatic mutation in single human neurons tracks developmental and transcriptional history.

Science 2015 Oct;350(6256):94-98

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA, USA; and Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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http://dx.doi.org/10.1126/science.aab1785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664477PMC
October 2015

Genomic variants and variations in malformations of cortical development.

Pediatr Clin North Am 2015 Jun 1;62(3):571-85. Epub 2015 Apr 1.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2015.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449454PMC
June 2015

The diverse genetic landscape of neurodevelopmental disorders.

Annu Rev Genomics Hum Genet 2014 ;15:195-213

Division of Genetics and Genomics, Department of Medicine; Manton Center for Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115; email: , ,

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http://dx.doi.org/10.1146/annurev-genom-090413-025600DOI Listing
May 2015

Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex.

Nat Neurosci 2015 May 3;18(5):637-46. Epub 2015 Mar 3.

1] Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA. [2] Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA. [3] Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA. [4] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA. [5] Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA. [6] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/nn.3980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568903PMC
May 2015

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Ann Neurol 2015 Apr 26;77(4):720-5. Epub 2015 Feb 26.

Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA.

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http://dx.doi.org/10.1002/ana.24357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4471336PMC
April 2015

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology 2015 Apr 1;84(17):1745-50. Epub 2015 Apr 1.

From Monogenic Molecular Genetics (M.Y.A., B.A.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter; Centre for Human Genetics (M.Y.A., B.A.C., E.L.B., M.A.P., A.H.C.), St. George's, University of London, UK; National Genetic Center (A.R.), Ministry of Health, Muscat, Sultanate of Oman; Division of Genetics and Genomics, Department of Medicine (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), Manton Center for Orphan Disease Research (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), and Howard Hughes Medical Institute (J.N.P., R.S.H., G.D.E., S.S., C.A.W.), Boston Children's Hospital; Departments of Pediatrics (K.S.-A., K.M., C.A.W., G.H.M.) and Neurology (C.A.W.), and Program in Biological and Biomedical Sciences (G.D.E.), Harvard Medical School, Boston; Program in Medical and Population Genetics (K.S.-A., K.M., C.A.W.), Broad Institute of MIT and Harvard University, Cambridge, MA; Department of Biology (A.A.-K.), College of Science, Sultan Qaboos University, Sultanate of Oman; Wellcome Trust Sanger Institute (S.A.-T., M.E.H.), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Department of Neurology (A.Y.A.-M.), Atkinson Morley Wing, St. George's Hospital, London, UK; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston, MA.

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http://www.walshlab.org/uploads/publications/266/2015neurolo
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http://www.neurology.org/content/84/17/1745.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424132PMC
April 2015

Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt.

Genes Dev 2015 Mar;29(5):501-12

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts 02115, USA;

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http://dx.doi.org/10.1101/gad.258483.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4358403PMC
March 2015

Genetic changes shaping the human brain.

Dev Cell 2015 Feb;32(4):423-34

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2015.01.035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429600PMC
February 2015

Cell lineage analysis in human brain using endogenous retroelements.

Neuron 2015 Jan;85(1):49-59

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Departments of Neurology and Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299461PMC
January 2015

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Neuron 2014 Dec;84(6):1240-57

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA; Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485387PMC
December 2014

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Hum Mol Genet 2014 Nov 11;23(21):5781-92. Epub 2014 Jun 11.

Department of Pharmacology and Physiology and Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA,

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http://dx.doi.org/10.1093/hmg/ddu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189906PMC
November 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 11;371(21):2038

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http://dx.doi.org/10.1056/NEJMc1411784DOI Listing
November 2014

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cell Rep 2014 Sep 21;8(5):1280-9. Epub 2014 Aug 21.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA; Program of Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.07.043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272008PMC
September 2014

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Cell Rep 2014 Aug 24;8(3):647-55. Epub 2014 Jul 24.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815-6789, USA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.06.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334362PMC
August 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Hum Mol Genet 2014 Jul 5;23(13):3456-66. Epub 2014 Feb 5.

Division of Genetics and Genomics, Department of Medicine Manton Center for Orphan Disease Research and Department of Pediatrics Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049305PMC
July 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Reply: To PMID 24243345.

Ann Neurol 2014 Feb 2;75(2):326. Epub 2014 Jan 2.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1002/ana.24055DOI Listing
February 2014

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

Science 2014 Feb;343(6172):764-8

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Broad Institute of MIT and Harvard, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1244392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480613PMC
February 2014

Peter Huttenlocher (1931-2013).

Nature 2013 Oct;502(7470):172

Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. harvard.edu

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http://dx.doi.org/10.1038/502172aDOI Listing
October 2013

Neuroscience. What are mini-brains?

Science 2013 Oct;342(6155):200-1

Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Children's Hospital Boston, Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1245812DOI Listing
October 2013

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar Oliveira Line Olsen Roel A Ophoff Urban Osby Michael J Owen Aarno Palotie Jeremy R Parr Andrew D Paterson Carlos N Pato Michele T Pato Brenda W Penninx Michele L Pergadia Margaret A Pericak-Vance Benjamin S Pickard Jonathan Pimm Joseph Piven Danielle Posthuma James B Potash Fritz Poustka Peter Propping Vinay Puri Digby J Quested Emma M Quinn Josep Antoni Ramos-Quiroga Henrik B Rasmussen Soumya Raychaudhuri Karola Rehnström Andreas Reif Marta Ribasés John P Rice Marcella Rietschel Kathryn Roeder Herbert Roeyers Lizzy Rossin Aribert Rothenberger Guy Rouleau Douglas Ruderfer Dan Rujescu Alan R Sanders Stephan J Sanders Susan L Santangelo Joseph A Sergeant Russell Schachar Martin Schalling Alan F Schatzberg William A Scheftner Gerard D Schellenberg Stephen W Scherer Nicholas J Schork Thomas G Schulze Johannes Schumacher Markus Schwarz Edward Scolnick Laura J Scott Jianxin Shi Paul D Shilling Stanley I Shyn Jeremy M Silverman Susan L Slager Susan L Smalley Johannes H Smit Erin N Smith Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800159PMC
September 2013

New innovations: therapeutic opportunities for intellectual disabilities.

Ann Neurol 2013 Sep;74(3):382-90

Division of Genetics, Boston Children's Hospital, and Howard Hughes Medical Institute, Boston, MA; Departments of Pediatrics and Neurology,, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1002/ana.24002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876407PMC
September 2013

Somatic mutation, genomic variation, and neurological disease.

Science 2013 Jul;341(6141):1237758

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1237758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909954PMC
July 2013

Genetic causes of microcephaly and lessons for neuronal development.

Wiley Interdiscip Rev Dev Biol 2013 Jul 4;2(4):461-78. Epub 2012 Oct 4.

Division of Pediatric Neurology, Department of Pediatrics, Case Western Reserve University, Cleveland, OH, USA.

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http://dx.doi.org/10.1002/wdev.89DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3767923PMC
July 2013

Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants.

J Vis Exp 2013 Mar 11(73):e50333. Epub 2013 Mar 11.

Department of Physical Medicine and Rehabilitation, VA Greater Los Angeles Healthcare System, USA.

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http://dx.doi.org/10.3791/50333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635544PMC
March 2013

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

J Child Neurol 2013 Feb 23;28(2):198-203. Epub 2012 Dec 23.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073812467850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876412PMC
February 2013

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Nucleic Acids Res 2012 Aug 15;40(14):6608-19. Epub 2012 Apr 15.

Genome Damage and Stability Centre, University of Sussex, Science Park Road, Falmer, Brighton, BN1 9RQ, UK.

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http://dx.doi.org/10.1093/nar/gks318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413127PMC
August 2012

Neurogenesis at the brain-cerebrospinal fluid interface.

Annu Rev Cell Dev Biol 2011 21;27:653-79. Epub 2011 Jul 21.

Division of Genetics, Howard Hughes Medical Institute, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1146/annurev-cellbio-092910-154026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777264PMC
February 2012

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Am J Med Genet A 2011 Nov 30;155A(11):2647-53. Epub 2011 Sep 30.

Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.34219
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http://dx.doi.org/10.1002/ajmg.a.34219DOI Listing
November 2011

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Curr Opin Genet Dev 2011 Jun 1;21(3):333-9. Epub 2011 Feb 1.

Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Children's Hospital Boston, Boston, MA 02115, United States.

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http://dx.doi.org/10.1016/j.gde.2011.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139684PMC
June 2011

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

PLoS Genet 2011 May 19;7(5):e1002062. Epub 2011 May 19.

Departments of Ophthalmology and Anatomy, Institute for Human Genetics, University of California San Francisco School of Medicine, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098190PMC
May 2011