GaneshwaranHMochidaMD

PubMed

• 3 citations
  Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
  Shyam K Akula, Allen Y Chen, Jennifer E Neil, Diane D Shao, Alisa Mo, Norma K Hylton, Stephanie DiTroia, Vijay S Ganesh, Richard S Smith, Katherine O'Kane, Rebecca C Y...> ;JAMA Neurology. 2023 Sep 1
• 2 citations
  Integrative systems biology characterizes immune-mediated neurodevelopmental changes in murine Zika virus microcephaly.
  Kimino Fujimura, Amanda J Guise, Tojo Nakayama, Christoph N Schlaffner, Anais Meziani, Mukesh Kumar, Long Cheng, Dylan J Vaughan, Andrew Kodani, Simon Van Haren, Kenne...> ;Iscience. 2023 Jul 21
• 6 citations
  Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
  Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz-Rogers, Yuri A Zarate, G Bradley Schaefer, Jorge Luis Granadillo De Luque,...> ;American Journal of Human Genetics. 2023 May 4
• 5 citations
  Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
  Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, Angeline H. M. Lai, Maggie Brett, Ganeshwaran H. Mochida, Stephanie DiTro...> ;European Journal of Human Genetics. 2021 Aug 20
• 1 citations
  Zika Virus: Learning from the Past as We Prepare for the Future.
  Ganeshwaran H. Mochida> ;The Journal of Pediatrics. 2020 Jul 1
• 3 citations
  Holoprosencephaly in Kabuki syndrome.
  Tara Daly, Abra Roberts, Edward Yang, Ganeshwaran H. Mochida, Olaf Bodamer> ;American Journal of Medical Genetics. Part A. 2020 Mar 1
• 12 citations
  Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
  Michael E. Coulter, Damir Musaev, Ellen M DeGennaro, Xiaochang Zhang, Katrin Henke, Kiely N. James, Richard S. Smith, R. Sean Hill, Jennifer N. Partlow, Muna Al-Saffar...> ;Genetics in Medicine. 2020 Feb 27
• 39 citations
  Clinical and neurodevelopmental features in children with cerebral palsy and probable congenital Zika.
  Alessandra L. de Carvalho, Carlos Brites, Ganeshwaran H. Mochida, Paloma Ventura, Adriana Fernandes, Maria Lúcia Lage, Tânia Taguchi, Ivar Brandi, Alfredo Carlos Silva...> ;Brain & Development. 2019 Aug 1
• 22 citations
  PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
  Raida Khalil, Connor J. Kenny, R. Sean Hill, Ganeshwaran H. Mochida, Ramzi Nasir, Jennifer N. Partlow, Brenda J. Barry, Muna Al-Saffar, Chloe Egan, Christine Stevens, ...> ;American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2018 Dec 1
• 12 citations
  Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016.
  Mariana Kikuti, Cristiane Wanderley Cardoso, Ana Paula Pitanga Barbuda Prates, Igor A.D. Paploski, Uriel Kitron, Mitermayer G. Reis, Ganeshwaran H. Mochida, Guilherme ...> ;Euro Surveillance. 2018 Nov 8
• 55 citations
  The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.
  Michael E. Coulter, Cristina M. Dorobantu, Gerrald A Lodewijk, François Delalande, Sarah Cianférani, Vijay S. Ganesh, Richard S. Smith, Elaine T. Lim, C. Shan Xu, Song...> ;Cell Reports. 2018 Jul 24
• 32 citations
  Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome
  Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, R. Sean Hill, Michael E. Coulter, Anh Thu N. Lam, Divya Jayaraman, D...> ;Genome Research. 2017 Aug 1
• 38 citations
  Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
  Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R. Andriola, R. Sean Hill, Dylan J. Vaughan, Malak El-Quessny, Brenda J. Barry, Jennifer N. Partlow, ...> ;Human Mutation. 2017 Jun 23
• 90 citations
  Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate
  Divya Jayaraman, Andrew Kodani, Dilenny M. Gonzalez, Joseph D. Mancias, Ganeshwaran H. Mochida, Cristiana Vagnoni, Jeffrey R. Johnson, Nevan J. Krogan, J. Wade Harper,...> ;Neuron. 2016 Nov 23
• 43 citations
  Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features
  Qing Ouyang, Tojo Nakayama, Ozan Baytas, Shawn M. Davidson, Chendong Yang, Michael Schmidt, Sofia B. Lizarraga, Sasmita Mishra, Malak Ei-Quessny, Saima Niaz, Mirrat Gu...> ;Proceedings of the National Academy of Sciences of the United States of America. 2016 Sep 20
• 32 citations
  Novel loss‐of‐function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
  Almundher Al-Maawali, Brenda J. Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwa...> ;American Journal of Medical Genetics. Part A. 2016 Feb 1
• 53 citations
  Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
  Tojo Nakayama, Almundher Al-Maawali, Malak El-Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen-Hann Tan, Ramzi Nasir, Klaus Schmitz-Abe, R. Sean Hill, Jennifer N...> ;American Journal of Human Genetics. 2015 May 7
• 35 citations
  Loss of PCLO function underlies pontocerebellar hypoplasia type III
  Mustafa Y. Ahmed, Barry A. Chioza, Anna Rajab, K. Schmitz-Abe, Aisha Al-Khayat, S. Al-Turki, Emma L. Baple, M. A. Patton, Ali Al-Memar, Matthew E. Hurles, Jennifer N. ...> ;Neurology. 2015 Apr 28
• 75 citations
  Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
  Wen Fan Hu, Oz Pomp, Tawfeg Ben-Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong ...> ;Neuron. 2014 Dec 17
• 5 citations
  Neuropsychological Function in a Child with 18p Deletion Syndrome: A Case Report
  Brian L. B. Willoughby, Marcus Favero, Ganeshwaran H. Mochida, Ellen B. Braaten> ;Cognitive and Behavioral Neurology. 2014 Sep 1
• 3 citations
  Case 27-2014
  Inderneel Sahai, Ganeshwaran H. Mochida, Eric F. Grabowski, Paul A. Caruso> ;The New England Journal of Medicine. 2014 Aug 27
• 31 citations
  METTL23, a Transcriptional Partner of GABPA, Is Essential for Human Cognition
  Rachel Elizabeth Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu, Salma Ben-Salem, Michael E. Coulter, Christian Schubert, R. Sean Hill, Nadia Akawi, Banan Al-Younes,...> ;Human Molecular Genetics. 2014 Jul 1
• Studying rare genetic disorders in child neurology – the need for an international network of collaboration
  Ganeshwaran H. Mochida, Harry T. Chugani> ;Developmental Medicine and Child Neurology. 2014 May 1
• 97 citations
  Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
  Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein, Annapurna Poduri...> ;American Journal of Human Genetics. 2014 Apr 3
• 7 citations
  Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients.
  Yuko Adachi, Ganeshwaran H. Mochida, Christopher A. Walsh, James Barkovich> ;Neuropediatrics. 2013 Nov 14
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