Joseph G Gleeson

Joseph G Gleeson

UNVERIFIED PROFILE

Are you Joseph G Gleeson?   Register this Author

Register author
Joseph G Gleeson

Joseph G Gleeson

Publications by authors named "Joseph G Gleeson"

Are you Joseph G Gleeson?   Register this Author

100Publications

3767Reads

18Profile Views

NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs.

Nucleic Acids Res 2019 Jul 5. Epub 2019 Jul 5.

Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkz559DOI Listing
July 2019

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.

Am J Hum Genet 2019 Apr 21;104(4):731-737. Epub 2019 Mar 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451727PMC
April 2019

Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors.

Neuron 2019 Mar 31;101(6):1089-1098.e4. Epub 2019 Jan 31.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, Department of Neurosciences, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690588PMC
March 2019

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Am J Hum Genet 2018 08 19;103(2):296-304. Epub 2018 Jul 19.

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080764PMC
August 2018

Early life experience shapes neural genome.

Science 2018 03;359(6382):1330-1331

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.aat3977DOI Listing
March 2018

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.

Neurology 2017 11 1;89(22):2297-2298. Epub 2017 Nov 1.

From the University of California San Diego (J.F., A.F., N.C., J.S., J.G.G.); Rady Children's Hospital (J.F., A.F., N.C., J.G.G.); Rady Children's Institute for Genomic Medicine (J.F., J.G.G.), San Diego, CA; and Howard Hughes Medical Institute (J.G.G.), Chevy Chase, MD.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000004689DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705245PMC
November 2017

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Am J Hum Genet 2017 Sep 17;101(3):441-450. Epub 2017 Aug 17.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949PMC
September 2017

Homozygous mutation in leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

J Med Genet 2017 06 9;54(6):399-403. Epub 2017 Mar 9.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104237DOI Listing
June 2017

DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neurons.

Dev Neurobiol 2017 04 24;77(4):493-510. Epub 2016 Nov 24.

Department of Biological Sciences, School of Science, The University of Tokyo, Tokyo, 113-0033, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dneu.22428DOI Listing
April 2017

The Neurobiology of Zika Virus.

Neuron 2016 Dec;92(5):949-958

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08966273163089
Publisher Site
http://dx.doi.org/10.1016/j.neuron.2016.11.031DOI Listing
December 2016

Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation.

Cell Stem Cell 2016 11 18;19(5):593-598. Epub 2016 Aug 18.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA 10065 and Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S19345909163025
Publisher Site
http://dx.doi.org/10.1016/j.stem.2016.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097023PMC
November 2016

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Am J Hum Genet 2016 Nov 20;99(5):1181-1189. Epub 2016 Oct 20.

Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA; Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097947PMC
November 2016

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.

Am J Hum Genet 2016 Oct 8;99(4):912-916. Epub 2016 Sep 8.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.07.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065650PMC
October 2016

When size matters: CHD8 in autism.

Nat Neurosci 2016 10;19(11):1430-1432

Department of Neurosciences, Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nn.4431DOI Listing
October 2016

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Eur J Paediatr Neurol 2016 Sep 30;20(5):714-22. Epub 2016 May 30.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993451PMC
September 2016

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Hum Genet 2016 08 31;135(8):919-921. Epub 2016 May 31.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1689-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955754PMC
August 2016

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.

Am J Hum Genet 2016 Aug 21;99(2):501-10. Epub 2016 Jul 21.

Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA; Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, NY 10065, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30276-2.pdf
Web Search
http://www.cell.com/cms/attachment/2062243761/2063920621/mmc
Web Search
http://dx.doi.org/10.1016/j.ajhg.2016.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974110PMC
August 2016

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Ann Neurol 2016 07 1;80(1):59-70. Epub 2016 Jun 1.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938747PMC
July 2016

Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation.

Biochim Biophys Acta 2016 Jun 28;1863(6 Pt A):1307-18. Epub 2016 Mar 28.

Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, #81 Irwon-Ro Gangnam-Gu, Seoul 06351, Republic of Korea; SGI, Samsung Medical Center, #81 Irwon-Ro Gangnam-Gu, Seoul 06351, Republic of Korea. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamcr.2016.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886714PMC
June 2016

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Hum Genome Var 2014 6;1:14020. Epub 2014 Nov 6.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University , Al-Ain, United Arab Emirates.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2014.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785524PMC
April 2016

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Am J Med Genet A 2016 Apr 5;170A(4):992-8. Epub 2016 Jan 5.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011457PMC
April 2016

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Am J Hum Genet 2016 Jan 17;98(1):210-5. Epub 2015 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2041209479/2055059602/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500484
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.11.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716667PMC
January 2016

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Hum Mol Genet 2015 Dec 18;24(24):6877-85. Epub 2015 Sep 18.

Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB 58051-900, Brazil, Department of Biology, Paraiba State University (UEPB), Campina Grande, PB 58429-500, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296331PMC
December 2015

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Am J Med Genet A 2015 Nov 24;167A(11):2503-2507. Epub 2015 Jun 24.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York, New York.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011459PMC
November 2015

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA.

J Pediatr 2015 Nov 1;167(5):957-62. Epub 2015 Sep 1.

Laboratory of Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2015.07.049DOI Listing
November 2015

The human gene damage index as a gene-level approach to prioritizing exome variants.

Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1518646112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640721PMC
November 2015

Polo-like kinase 2 regulates angiogenic sprouting and blood vessel development.

Dev Biol 2015 Aug 22;404(2):49-60. Epub 2015 May 22.

Department of Medicine, University of California, San Diego, La Jolla, CA 92093-0613J, USA; Institute of Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00121606150028
Publisher Site
http://dx.doi.org/10.1016/j.ydbio.2015.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515213PMC
August 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncb3201
Publisher Site
http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Metab Brain Dis 2015 Jun 17;30(3):687-94. Epub 2014 Sep 17.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-014-9618-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915861PMC
June 2015

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

Novel STAMBP mutation and additional findings in an Arabic family.

Am J Med Genet A 2015 Apr 18;167A(4):805-9. Epub 2015 Feb 18.

Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36782DOI Listing
April 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Hum Genet 2014 Aug 20;133(8):1023-39. Epub 2014 Apr 20.

Division of Genetic Medicine, Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-014-1443-3
Publisher Site
http://dx.doi.org/10.1007/s00439-014-1443-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415612PMC
August 2014

Joubert syndrome: report of 11 cases.

Turk J Pediatr 2012 Nov-Dec;54(6):605-11

Department of Pediatric Neurology, Çukurova University Faculty of Medicine, Adana, Turkey.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442635PMC
July 2014

Pathogenetic mechanisms of focal cortical dysplasia.

Epilepsia 2014 Jul 23;55(7):970-8. Epub 2014 May 23.

Department of Neurology and Neurotherapeutics, and Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, U.S.A.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/epi.12650
Publisher Site
http://dx.doi.org/10.1111/epi.12650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107035PMC
July 2014

Primary cilia in the developing and mature brain.

Neuron 2014 May;82(3):511-21

Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08966273140033
Publisher Site
http://dx.doi.org/10.1016/j.neuron.2014.04.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104280PMC
May 2014

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.

Gene 2014 Apr 13;539(2):279-82. Epub 2014 Feb 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.01.070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5226855PMC
April 2014

The genetic landscape of autism spectrum disorders.

Dev Med Child Neurol 2014 Jan 1;56(1):12-8. Epub 2013 Oct 1.

Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.12278DOI Listing
January 2014

Primary cilia in neurodevelopmental disorders.

Nat Rev Neurol 2014 Jan 3;10(1):27-36. Epub 2013 Dec 3.

Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences and Pediatrics, Rady Children's Hospital, University of California, San Diego, 9500 Silman Drive, La Jolla, CA 92093, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nrneurol.2013.247
Publisher Site
http://dx.doi.org/10.1038/nrneurol.2013.247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3989897PMC
January 2014

Mutations in CSPP1 lead to classical Joubert syndrome.

Am J Hum Genet 2014 Jan 19;94(1):80-6. Epub 2013 Dec 19.

Neurogenetics Laboratory, Institute for Genomic Medicine and Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Howard Hughes Medical Institute. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882909PMC
January 2014

The sacred disease: the puzzling genetics of epileptic disorders.

Neuron 2013 Oct 2;80(1):9-11. Epub 2013 Oct 2.

Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08966273130085
Publisher Site
http://dx.doi.org/10.1016/j.neuron.2013.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984878PMC
October 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.

View Article

Download full-text PDF

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

NSun2-mediated cytosine-5 methylation of vault noncoding RNA determines its processing into regulatory small RNAs.

Cell Rep 2013 Jul 18;4(2):255-61. Epub 2013 Jul 18.

Wellcome Trust - Medical Research Council Cambridge Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QR, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2013.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3730056PMC
July 2013

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

Curr Opin Neurol 2013 Apr;26(2):122-7

Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00019052-201304000-000
Publisher Site
http://dx.doi.org/10.1097/WCO.0b013e32835ef373DOI Listing
April 2013

CCDC41 is required for ciliary vesicle docking to the mother centriole.

Proc Natl Acad Sci U S A 2013 Apr 25;110(15):5987-92. Epub 2013 Mar 25.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1220927110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625310PMC
April 2013