V
Vijay S. Ganesh
Researcher at Harvard University
Publications - 24
Citations - 1685
Vijay S. Ganesh is an academic researcher from Harvard University. The author has contributed to research in topics: FLNA & Muscular dystrophy. The author has an hindex of 14, co-authored 21 publications receiving 1380 citations. Previous affiliations of Vijay S. Ganesh include Howard Hughes Medical Institute & Beth Israel Deaconess Medical Center.
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Journal ArticleDOI
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
Volney L. Sheen,Vijay S. Ganesh,Meral Topçu,Guillaume Sébire,Adria Bodell,R. Sean Hill,P. Ellen Grant,Yin Yao Shugart,Jaime Imitola,Samia J. Khoury,Renzo Guerrini,Christopher A. Walsh +11 more
TL;DR: It is shown that vesicle trafficking is an important regulator of proliferation and migration during human cerebral cortical development and inhibition of BIG2 by BFA or by a dominant negative ARFGEF2 cDNA, decreases cell proliferation in vitro, suggesting a cell-autonomous regulation of neural expansion.
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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
Jun Shen,Edward C. Gilmore,Edward C. Gilmore,Christine A Marshall,Mary Haddadin,John J. Reynolds,Wafaa Eyaid,Adria Bodell,Brenda J. Barry,Danielle Gleason,Kathryn Allen,Vijay S. Ganesh,Bernard S. Chang,Arthur Grix,R. Sean Hill,Meral Topçu,Keith W. Caldecott,A. James Barkovich,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh +20 more
TL;DR: A previously unknown autosomal recessive disease characterized by microcephaly, early-onset, intractable seizures and developmental delay (denoted MCSZ) is described and multiple mutations in PNKP (polynucleotide kinase 3′-phosphatase) that result in severe neurological disease are identified.
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
Volney L. Sheen,Anna Jansen,Ming-Hui Chen,Elena Parrini,Timothy R. Morgan,R. Ravenscroft,Vijay S. Ganesh,T. Underwood,James S. Wiley,Richard J. Leventer,R. R. Vaid,D. E. Ruiz,G. M. Hutchins,J. Menasha,Judith P. Willner,Y. Geng,Karen W. Gripp,Linda Nicholson,Elizabeth Berry-Kravis,Adria Bodell,Kira Apse,Robert Sean Hill,François Dubeau,F. Andermann,James Barkovich,Eva Andermann,Yin Yao Shugart,Pierre Thomas,Maurizio Viri,Pierangelo Veggiotti,Stephen P. Robertson,Renzo Guerrini,Christopher A. Walsh +32 more
TL;DR: The results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.
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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-Jacques Muyembe-Tamfum,Asim A. Ahmed,Asim A. Ahmed,Vijay S. Ganesh,Manasi Tamhankar,Jean L. Patterson,Nicaise Ndembi,Dora Mbanya,Dora Mbanya,Lazare Kaptue,Carole McArthur,José Esteban Muñoz-Medina,César González-Bonilla,Susana López,Carlos F. Arias,Shaun Arevalo,Steve Miller,Mars Stone,Michael P. Busch,Kristina Hsieh,Sharon Messenger,Debra A. Wadford,Mary A. Rodgers,Gavin Cloherty,Nuno R. Faria,Julien Thézé,Oliver G. Pybus,Zoraima Neto,Joana Morais,Nuno Taveira,John R. Hackett,Charles Y. Chiu +41 more
TL;DR: A new method is described that improves the sensitivity of viral detection compared with next-generation sequencing and enables the detection of emerging flaviviruses not specifically targeted a priori.
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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,Anna-Kaisa Anttonen,Jaakko Ignatius,Livija Medne,Carsten G. Bönnemann,Jonathan L. Hecht,Oili Salonen,A. James Barkovich,Annapurna Poduri,Martina Wilke,Marie Claire Y. de Wit,Grazia M.S. Mancini,László Sztriha,Kiho Im,Dina Amrom,Eva Andermann,Ritva Paetau,Anna-Elina Lehesjoki,Christopher A. Walsh,Maria K. Lehtinen +28 more
TL;DR: A unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel NaV1.3 is discovered, implicating SCN2A in prenatal development of human cortical language areas and underscoring the unexpected role of SCN 3A in progenitor cells and migrating neurons.