VijaySGaneshMDPhD

PubMed

• variants in the non-coding spliceosomal snRNA geneare a frequent cause of syndromic neurodevelopmental disorders.
  Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle...> ;Medrxiv. 2024 Apr 9
• Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
  Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich...> ;American Journal of Human Genetics. 2024 Mar 27
• Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
  Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew...> ;Annals of Clinical and Translational Neurology. 2024 Mar 27
• Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
  Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A St...> ;Medrxiv. 2024 Feb 27
• Novel syndromic neurodevelopmental disorder caused bydeletion of, a long noncoding RNA.
  Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Est...> ;Medrxiv. 2024 Feb 7
• Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
  Agrawal, P. B., Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England...> ;Medrxiv. 2023 Oct 5
• 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
• Identification of amutation inassociated with a neurodevelopmental disorder and immunodeficiency.
  Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S Ganesh, Marina Gay,...> ;Medrxiv. 2023 Aug 24
• 1 citations
  Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
  Sarah L Stenton, Melanie O'Leary, Gabrielle Lemire, Grace E VanNoy, Stephanie DiTroia, Vijay S Ganesh, Emily Groopman, Emily O'Heir, Brian Mangilog, Ikeoluwa Osei-Owus...> ;Medrxiv. 2023 Aug 4
• Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
  Andres Nascimento, Christine C Bruels, Sandra Donkervoort, A Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Drap...> ;Acta Neuropathologica. 2023 Apr 1
• 11 citations
  Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
  Christine C Bruels, Hannah R Littel, Audrey L Daugherty, Seth Stafki, Elicia A Estrella, Emily S McGaughy, Don Truong, Jonathan P Badalamenti, Lynn Pais, Vijay S Ganes...> ;Annals of Clinical and Translational Neurology. 2022 Aug 1
• 7 citations
  BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
  Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B. Cummings, Ying Hu, Rosemarie Smith, P...> ;EMBO Molecular Medicine. 2021 Nov 15
• 30 citations
  Enhanced Virus Detection and Metagenomic Sequencing in Patients with Meningitis and Encephalitis.
  Anne Piantadosi, Shibani S. Mukerji, Simon Ye, Michael J. Leone, Lisa Freimark, Daniel J. Park, Gordon Adams, Jacob E. Lemieux, Sanjat Kanjilal, Isaac H. Solomon, Asim...> ;Mbio. 2021 Aug 31
• 3 citations
  Erratum: A form of muscular dystrophy associated with pathogenic variants in JAG2 (The American Journal of Human Genetics (2021) 108(5) (840–856), (S0002929721001300),...
  Sandra Coppens, Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas-Franco, Christine C. Bruels, Sandra Donkervoort, Lynn Pais, Katheri...> ;American Journal of Human Genetics. 2021 Jun 3
• 7 citations
  A form of muscular dystrophy associated with pathogenic variants in JAG2.
  Sandra Coppens, Alison M Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas-Franco, Christine C Bruels, Sandra Donkervoort, Lynn Pais, Katherine...> ;American Journal of Human Genetics. 2021 May 6
• 13 citations
  Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in Patient Receiving Rituximab.
  Isaac H. Solomon, Vijay S. Ganesh, Guixia Yu, Xianding Deng, Michael R. Wilson, Steve Miller, Tracey A. Milligan, Shibani S. Mukerji, Abigail A Mathewson, Justin Linxw...> ;Emerging Infectious Diseases. 2021 Jan 1
• 17 citations
  Jamestown Canyon virus in Massachusetts: clinical case series and vector screening
  Cormac M. Kinsella, Molly L Paras, Sandra Smole, Samar B. Mehta, Vijay S. Ganesh, Lin H. Chen, Daniel P. McQuillen, Ruta Shah, Justin Chan, Matthew Osborne, Scott Henn...> ;Emerging Microbes & Infections. 2020 May 13
• 2 citations
  Author Correction: Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance.
  Xianding Deng, Asmeeta Achari, Scot Federman, Guixia Yu, Sneha Somasekar, Inês Bártolo, Shigeo Yagi, Placide Mbala-Kingebeni, Jimmy Kapetshi, Steve Ahuka-Mundeke, Jean...> ;Nature Microbiology. 2020 Jan 21
• 93 citations
  Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance
  Xianding Deng, Asmeeta Achari, Scot Federman, Guixia Yu, Sneha Somasekar, Inês Bártolo, Shigeo Yagi, Placide Mbala-Kingebeni, Jimmy Kapetshi, Steve Ahuka-Mundeke, Jean...> ;Nature Microbiology. 2020 Jan 13
• 93 citations
  Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
  Richard S. Smith, Connor J. Kenny, Vijay S. Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, R. Sean Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Ann...> ;Neuron. 2018 Sep 5
• 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
• 34 citations
  Rapid Detection of Powassan Virus in a Patient With Encephalitis by Metagenomic Sequencing
  Anne Piantadosi, Sanjat Kanjilal, Vijay S. Ganesh, Arjun Khanna, Emily P. Hyle, Jonathan Rosand, Tyler D. Bold, Hayden C. Metsky, Jacob E. Lemieux, Michael J. Leone, L...> ;Clinical Infectious Diseases. 2018 Feb 10
• 76 citations
  CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
  Ganeshwaran H. Mochida, Vijay S. Ganesh, María Isabel Quiroga de Michelena, Hugo Dias, Kutay Deniz Atabay, Katie L. Kathrein, Hsuan Ting Huang, R. Sean Hill, Jillian M...> ;Nature Genetics. 2012 Nov 1
• 18 citations
  FLNA genomic rearrangements cause periventricular nodular heterotopia
  K.R. Clapham, Timothy W. Yu, Vijay S. Ganesh, Brenda J. Barry, Y. Chan, Davide Mei, Elena Parrini, B. Funalot, L. Dupuis, M.M. Nezarati, C. du Souich, C. van Karnebeek...> ;Neurology. 2012 Jan 24
• 69 citations
  A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
  Ganeshwaran H. Mochida, Vijay S. Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katie Rose Clapham, Daniel P. Rakiec, Wen-Hann Tan, Nadia Akawi, Muna Al-Saf...> ;American Journal of Human Genetics. 2010 Dec 10
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