Publications by authors named "Joseph Gleeson"

100Publications

Insight into developmental mechanisms of global and focal migration disorders of cortical development.

Curr Opin Neurobiol 2020 Oct 21;66:77-84. Epub 2020 Oct 21.

Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California San Diego, San Diego, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.conb.2020.10.005DOI Listing
October 2020

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61926DOI Listing
October 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

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

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Closing in on Mechanisms of Open Neural Tube Defects.

Trends Neurosci 2020 Jul 15;43(7):519-532. Epub 2020 May 15.

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

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http://dx.doi.org/10.1016/j.tins.2020.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7321880PMC
July 2020

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

BMC Med Genomics 2020 05 13;13(1):68. Epub 2020 May 13.

Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1186/s12920-020-0714-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218834PMC
May 2020

Primary Cilia and Brain Wiring, Connecting the Dots.

Dev Cell 2019 12;51(6):661-663

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2019.11.017DOI Listing
December 2019

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

Am J Hum Genet 2019 04 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:

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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 03 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:

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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:

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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.

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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.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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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:

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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.

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

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

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

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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.

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

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

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.

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

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:

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

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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.

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

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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:

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

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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:

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

Long-term outcomes in patients diagnosed with bile-acid diarrhoea.

Eur J Gastroenterol Hepatol 2016 Feb;28(2):240-5

aDepartment of Gastroenterology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Trust bDepartment of Infection and Immunity, Academic Unit of Gastroenterology, Medical School, University of Sheffield, Sheffield, UK.

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http://pdfs.journals.lww.com/eurojgh/2016/02000/Long_term_ou
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MEG.0000000000000541DOI Listing
February 2016

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

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

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.

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

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

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

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

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

Case Rep Pediatr 2015 17;2015:385910. Epub 2015 May 17.

Neurogenetics Laboratory, Department of Neurosciences and Paediatrics, USA ; Rady Children's Hospital, USA ; Howard Hughes Medical Institute, CA, USA.

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http://www.hindawi.com/journals/cripe/2015/385910/
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http://dx.doi.org/10.1155/2015/385910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449927PMC
June 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:

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

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