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139 results for Gleeson,+Joseph+G

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Select record 21
ArticlesPeer ReviewedFull Text
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Author / Creator:Wang, Lu ; Li, Zhen ; Sievert, David ; Smith, Desirée E. C. ; Mendes, Marisa I. ; Chen, Dillon Y. ; Stanley, Valentina ; Ghosh, Shereen ; Wang, Yulu ; Kara, Majdi ; Aslanger, Ayca Dilruba ; Rosti, Rasim O. ; Houlden, Henry ; Salomons, Gajja S. ; Gleeson, Joseph G.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-08, Vol.11 (1), p.4038-12, Article 4038
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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Author / Creator:Rapaport, Franck ; Boisson, Bertrand ; Gregor, Anne ; Béziat, Vivien ; Boisson-Dupuis, Stéphanie ; Bustamante, Jacinta ; Jouanguy, Emmanuelle ; Puel, Anne ; Rosain, Jérémie ; Zhang, Qian ; Zhang, Shen-Ying ; Gleeson, Joseph G. ; Quintana-Murci, Lluis ; Casanova, Jean-Laurent ; Abel, Laurent ; Patin, Etienne
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (3), p.1-9
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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Author / Creator:Guemez-Gamboa, Alicia ; Nguyen, Long N ; Yang, Hongbo ; Zaki, Maha S ; Kara, Majdi ; Ben-Omran, Tawfeg ; Akizu, Naiara ; Rosti, Rasim Ozgur ; Rosti, Basak ; Scott, Eric ; Schroth, Jana ; Copeland, Brett ; Vaux, Keith K ; Cazenave-Gassiot, Amaury ; Quek, Debra Q Y ; Wong, Bernice H ; Tan, Bryan C ; Wenk, Markus R ; Gunel, Murat ; Gabriel, Stacey ; Chi, Neil C ; Silver, David L ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2015-07, Vol.47 (7), p.809-813
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ArticlesPeer ReviewedFull Text
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Author / Creator:Martinez, Fernando Jose ; Lee, Jeong Ho ; Lee, Ji Eun ; Blanco, Sandra ; Nickerson, Elizabeth ; Gabriel, Stacey ; Frye, Michaela ; Al-Gazali, Lihadh ; Gleeson, Joseph G
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2012-06, Vol.49 (6), p.380-385
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ArticlesPeer ReviewedFull Text
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases
Author / Creator:Kim-McManus, Olivia ; Gleeson, Joseph G. ; Mignon, Laurence ; Smith Fine, Amena ; Yan, Winston ; Nolen, Nicole ; Demarest, Scott ; Berry-Kravis, Elizabeth ; Finkel, Richard ; Leonard, Stefanie ; Finlayson, Samuel ; Augustine, Erika ; Lyon, Gholson J. ; Schule, Rebecca ; Yu, Timothy
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-11, Vol.15 (1), p.9802-5, Article 9802
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ArticlesPeer ReviewedFull Text
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair
Author / Creator:Hanzlikova, Hana ; Prokhorova, Evgeniia ; Krejcikova, Katerina ; Cihlarova, Zuzana ; Kalasova, Ilona ; Kubovciak, Jan ; Sachova, Jana ; Hailstone, Richard ; Brazina, Jan ; Ghosh, Shereen ; Cirak, Sebahattin ; Gleeson, Joseph G. ; Ahel, Ivan ; Caldecott, Keith W.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-07, Vol.11 (1), p.3391-13, Article 3391
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Select record 27
ArticlesPeer ReviewedFull Text
Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation
Author / Creator:Baek, Seung Tae ; Kerjan, Geraldine ; Bielas, Stephanie L. ; Lee, Ji Eun ; Fenstermaker, Ali G. ; Novarino, Gaia ; Gleeson, Joseph G.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2014-06, Vol.82 (6), p.1255-1262
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Select record 28
ArticlesPeer ReviewedFull Text
CCDC41 is required for ciliary vesicle docking to the mother centriole
Author / Creator:Joo, Kwangsic ; Kim, Chang Gun ; Lee, Mi-Sun ; Moon, Hyun-Yi ; Lee, Sang-Hee ; Kim, Mi Jeong ; Kweon, Hee-Seok ; Park, Woong-Yang ; Kim, Cheol-Hee ; Gleeson, Joseph G. ; Kim, Joon
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2013-04, Vol.110 (15), p.5987-5992
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Select record 29
ArticlesPeer ReviewedFull Text
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Author / Creator:Bielas, Stephanie L ; Silhavy, Jennifer L ; Brancati, Francesco ; Kisseleva, Marina V ; Al-Gazali, Lihadh ; Sztriha, Laszlo ; Bayoumi, Riad A ; Zaki, Maha S ; Abdel-Aleem, Alice ; Rosti, Rasim Ozgur ; Kayserili, Hulya ; Swistun, Dominika ; Scott, Lesley C ; Bertini, Enrico ; Boltshauser, Eugen ; Fazzi, Elisa ; Travaglini, Lorena ; Field, Seth J ; Gayral, Stephanie ; Jacoby, Monique ; Schurmans, Stephane ; Dallapiccola, Bruno ; Majerus, Philip W ; Valente, Enza Maria ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-09, Vol.41 (9), p.1032-1036
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Select record 30
ArticlesPeer ReviewedFull Text
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
Author / Creator:Mirzaa, Ghayda M. ; Vitre, Benjamin ; Carpenter, Gillian ; Abramowicz, Iga ; Gleeson, Joseph G. ; Paciorkowski, Alex R. ; Cleveland, Don W. ; Dobyns, William B. ; O’Driscoll, Mark
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2014-08, Vol.133 (8), p.1023-1039
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Select record 31
ArticlesPeer ReviewedFull Text
Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission
Author / Creator:Breuss, Martin W ; Yang, Xiaoxu ; Stanley, Valentina ; McEvoy-Venneri, Jennifer ; Xu, Xin ; Morales, Arlene J ; Gleeson, Joseph G
Publisher:Cambridge: eLife Science Publications, Ltd
Journal title:eLife, 2022-07, Vol.11
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Select record 32
ArticlesPeer ReviewedFull Text
Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain
Author / Creator:Koizumi, Hiroyuki ; Higginbotham, Holden ; Poon, Tiffany ; Tanaka, Teruyuki ; Brinkman, Brendan C ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2006-06, Vol.9 (6), p.779-786
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Select record 33
ArticlesPeer ReviewedFull Text
The Sacred Disease: The Puzzling Genetics of Epileptic Disorders
Author / Creator:Novarino, Gaia ; Baek, Seung Tae ; Gleeson, Joseph G.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2013-10, Vol.80 (1), p.9-11
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Select record 34
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Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
Author / Creator:Caglayan, Ahmet Okay ; Tuysuz, Beyhan ; Gül, Ece ; Alkaya, Dilek Uludag ; Yalcinkaya, Cengiz ; Gleeson, Joseph G. ; Bilguvar, Kaya ; Gunel, Murat
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-09, Vol.67 (9), p.553-556
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Author / Creator:Valente, Enza Maria ; Silhavy, Jennifer L ; Brancati, Francesco ; Barrano, Giuseppe ; Krishnaswami, Suguna Rani ; Castori, Marco ; Lancaster, Madeline A ; Boltshauser, Eugen ; Boccone, Loredana ; Al-Gazali, Lihadh ; Fazzi, Elisa ; Signorini, Sabrina ; Louie, Carrie M ; Bellacchio, Emanuele ; Related Disorders Study Group, International Joubert Syndrome ; Bertini, Enrico ; Dallapiccola, Bruno ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-06, Vol.38 (6), p.623-625
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Select record 36
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Author / Creator:Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487
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Select record 37
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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
Author / Creator:Wang, Lu ; Li, Zhen ; Sievert, David ; Smith, Desirée E. C. ; Mendes, Marisa I. ; Chen, Dillon Y. ; Stanley, Valentina ; Ghosh, Shereen ; Wang, Yulu ; Kara, Majdi ; Aslanger, Ayca Dilruba ; Rosti, Rasim O. ; Houlden, Henry ; Salomons, Gajja S. ; Gleeson, Joseph G.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-02, Vol.12 (1), p.1192-1192, Article 1192
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Select record 38
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Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome
Author / Creator:Roosing, Susanne ; Rosti, Rasim O. ; Rosti, Basak ; de Vrieze, Erik ; Silhavy, Jennifer L. ; van Wijk, Erwin ; Wakeling, Emma ; Gleeson, Joseph G.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-08, Vol.135 (8), p.919-921
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Select record 39
ArticlesPeer ReviewedFull Text
Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
Author / Creator:Ben-Salem, Salma ; Gleeson, Joseph G. ; Al-Shamsi, Aisha M. ; Islam, Barira ; Hertecant, Jozef ; Ali, Bassam R. ; Al-Gazali, Lihadh
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2015-06, Vol.30 (3), p.687-694
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Select record 40
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Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures
Author / Creator:Kerjan, Géraldine ; Koizumi, Hiroyuki ; Han, Edward B ; Dubé, Celine M ; Djakovic, Stevan N ; Patrick, Gentry N ; Baram, Tallie Z ; Heinemann, Stephen F ; Gleeson, Joseph G
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2009-04, Vol.106 (16), p.6766-6771
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

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A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases

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Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair

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Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation

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CCDC41 is required for ciliary vesicle docking to the mother centriole

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

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

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Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

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Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain

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The Sacred Disease: The Puzzling Genetics of Epileptic Disorders

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Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

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

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

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Mice lacking doublecortin and doublecortin-like kinase 2 display altered hippocampal neuronal maturation and spontaneous seizures

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