Works matching AU Ganesh, Vijay S

Results: 14

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Published in:

JAMA Neurology, 2023, v. 80, n. 9, p. 980, doi. 10.1001/jamaneurol.2023.2363

By:

Akula, Shyam K.;
Chen, Allen Y.;
Neil, Jennifer E.;
Shao, Diane D.;
Mo, Alisa;
Hylton, Norma K.;
DiTroia, Stephanie;
Ganesh, Vijay S.;
Smith, Richard S.;
O'Kane, Katherine;
Yeh, Rebecca C.;
Marciano, Jack H.;
Kirkham, Samantha;
Kenny, Connor J.;
Song, Janet H. T.;
Al Saffar, Muna;
Millan, Francisca;
Harris, David J.;
Murphy, Andrea V.;
Klemp, Kara C.

Publication type:

Article

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1260, doi. 10.1038/ng.2425

By:

Mochida, Ganeshwaran H;
Ganesh, Vijay S;
de Michelena, Maria I;
Dias, Hugo;
Atabay, Kutay D;
Kathrein, Katie L;
Huang, Hsuan-Ting;
Hill, R Sean;
Felie, Jillian M;
Rakiec, Daniel;
Gleason, Danielle;
Hill, Anthony D;
Malik, Athar N;
Barry, Brenda J;
Partlow, Jennifer N;
Tan, Wen-Hann;
Glader, Laurie J;
Barkovich, A James;
Dobyns, William B;
Zon, Leonard I

Publication type:

Article

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Published in:

Nature Genetics, 2010, v. 42, n. 3, p. 245, doi. 10.1038/ng.526

By:

Jun Shen;
Gilmore, Edward C.;
Marshall, Christine A.;
Haddadin, Mary;
Reynolds, John J.;
Eyaid, Wafaa;
Bodell, Adria;
Barry, Brenda;
Gleason, Danielle;
Allen, Kathryn;
Ganesh, Vijay S.;
Chang, Bernard S.;
Grix, Arthur;
Hill, R. Sean;
Topcu, Meral;
Caldecott, Keith W.;
Barkovich, A. James;
Walsh, Christopher A.

Publication type:

Article

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Published in:

2004

By:

Topcu, Meral;
Sebire, Guillaume;
Bodell, Adria;
Shugart, Yin Yao;
Imitola, Jaime;
Guerrini, Renzo;
Hill, R. Sean;
Grant, P. Ellen;
Walsh, Christopher A.;
Khoury, Samia J.;
Sheen, Volney L.;
Ganesh, Vijay S.

Publication type:

Letter

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.

Published in:

Muscle & Nerve, 2024, v. 70, n. 4, p. 843, doi. 10.1002/mus.28214

By:

Turner, Johnnie;
Bruels, Christine C.;
Daugherty, Audrey L.;
Estrella, Elicia A.;
Stafki, Seth;
Syeda, Safoora B.;
Littel, Hannah R.;
Pais, Lynn;
Ganesh, Vijay S.;
Lidov, Hart G. W.;
Paine, Simon M. L.;
Maddison, Paul;
Harrison, Rachel E.;
Straub, Volker;
Ghosh, Partha S.;
Pacak, Christina A.;
Kunkel, Louis M.;
Draper, Isabelle;
Topf, Ana;
Kang, Peter B.

Publication type:

Article

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00604-w

By:

Stenton, Sarah L.;
O'Leary, Melanie C.;
Lemire, Gabrielle;
VanNoy, Grace E.;
DiTroia, Stephanie;
Ganesh, Vijay S.;
Groopman, Emily;
O'Heir, Emily;
Mangilog, Brian;
Osei-Owusu, Ikeoluwa;
Pais, Lynn S.;
Serrano, Jillian;
Singer-Berk, Moriel;
Weisburd, Ben;
Wilson, Michael W.;
Austin-Tse, Christina;
Abdelhakim, Marwa;
Althagafi, Azza;
Babbi, Giulia;
Bellazzi, Riccardo

Publication type:

Article

Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 3, p. 440, doi. 10.1093/hmg/ddm322

By:

Esposito, Giuseppe;
Imitola, Jaime;
Lu, Jie;
De Filippis, Daniele;
Scuderi, Caterina;
Ganesh, Vijay S.;
Folkerth, Rebecca;
Hecht, Jonathan;
Shin, Soojung;
Iuvone, Teresa;
Chesnut, Jonathan;
Steardo, Luca;
Sheen, Volney

Publication type:

Article

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Published in:

EMBO Molecular Medicine, 2021, v. 13, n. 12, p. 1, doi. 10.15252/emmm.202013787

By:

Donkervoort, Sandra;
Krause, Niklas;
Dergai, Mykola;
Yun, Pomi;
Koliwer, Judith;
Gorokhova, Svetlana;
Geist Hauserman, Janelle;
Cummings, Beryl B;
Hu, Ying;
Smith, Rosemarie;
Uapinyoying, Prech;
Ganesh, Vijay S;
Ghosh, Partha S;
Monaghan, Kristin G;
Edassery, Seby L;
Ferle, Pia E;
Silverstein, Sarah;
Chao, Katherine R;
Snyder, Molly;
Ellingwood, Sara

Publication type:

Article

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Published in:

Acta Neuropathologica, 2023, v. 145, n. 4, p. 479, doi. 10.1007/s00401-023-02551-7

By:

Nascimento, Andres;
Bruels, Christine C.;
Donkervoort, Sandra;
Foley, A. Reghan;
Codina, Anna;
Milisenda, Jose C.;
Estrella, Elicia A.;
Li, Chengcheng;
Pijuan, Jordi;
Draper, Isabelle;
Hu, Ying;
Stafki, Seth A.;
Pais, Lynn S.;
Ganesh, Vijay S.;
O'Donnell-Luria, Anne;
Syeda, Safoora B.;
Carrera-García, Laura;
Expósito-Escudero, Jessica;
Yubero, Delia;
Martorell, Loreto

Publication type:

Article

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2392, doi. 10.1002/acn3.52154

By:

Ranta‐aho, Johanna;
Felice, Kevin J.;
Jonson, Per Harald;
Sarparanta, Jaakko;
Yvorel, Cédric;
Harzallah, Ines;
Touraine, Renaud;
Pais, Lynn;
Austin‐Tse, Christina A.;
Ganesh, Vijay S.;
O'Leary, Melanie C.;
Rehm, Heidi L.;
Hehir, Michael K.;
Subramony, Sub;
Wu, Qian;
Udd, Bjarne;
Savarese, Marco

Publication type:

Article

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 9, p. 2268, doi. 10.1002/acn3.52127

By:

Mohan, Shruthi;
McNulty, Shannon;
Thaxton, Courtney;
Elnagheeb, Marwa;
Owens, Emma;
Flowers, May;
Nunnery, Teagan;
Self, Autumn;
Palus, Brooke;
Gorokhova, Svetlana;
Kennedy, April;
Niu, Zhiyv;
Johari, Mridul;
Maiga, Alassane Baneye;
Macalalad, Kelly;
Clause, Amanda R.;
Beckmann, Jacques S.;
Bronicki, Lucas;
Cooper, Sandra T.;
Ganesh, Vijay S.

Publication type:

Article

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041

By:

Marchant, Rhett G.;
Bryen, Samantha J.;
Bahlo, Melanie;
Cairns, Anita;
Chao, Katherine R.;
Corbett, Alastair;
Davis, Mark R.;
Ganesh, Vijay S.;
Ghaoui, Roula;
Jones, Kristi J.;
Kornberg, Andrew J.;
Lek, Monkol;
Liang, Christina;
MacArthur, Daniel G.;
Oates, Emily C.;
O'Donnell‐Luria, Anne;
O'Grady, Gina L.;
Osei‐Owusu, Ikeoluwa A.;
Rafehi, Haloom;
Reddel, Stephen W.

Publication type:

Article

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1302, doi. 10.1002/acn3.51612

By:

Bruels, Christine C.;
Littel, Hannah R.;
Daugherty, Audrey L.;
Stafki, Seth;
Estrella, Elicia A.;
McGaughy, Emily S.;
Truong, Don;
Badalamenti, Jonathan P.;
Pais, Lynn;
Ganesh, Vijay S.;
O'Donnell‐Luria, Anne;
Stalker, Heather J.;
Wang, Yang;
Collins, Christin;
Behlmann, Andrea;
Lemmers, Richard J. L. F.;
van der Maarel, Silvère M.;
Laine, Regina;
Ghosh, Partha S.;
Darras, Basil T.

Publication type:

Article

Fatal Case of Chronic Jamestown Canyon Virus Encephalitis Diagnosed by Metagenomic Sequencing in Patient Receiving Rituximab.

Published in:

2021

By:

Solomon, Isaac H.;
Ganesh, Vijay S.;
Guixia Yu;
Xian Ding Deng;
Wilson, Michael R.;
Miller, Steve;
Milligan, Tracey A.;
Mukerji, Shibani S.;
Mathewson, Abigail;
Linxweiler, Justin;
Morse, Darlene;
Ritter, Jana M.;
Staples, J. Erin;
Hughes, Holly;
Gould, Carolyn V.;
Sabeti, Pardis C.;
Chiu, Charles Y.;
Piantadosi, Anne;
Yu, Guixia;
Deng, Xian Ding

Publication type:

journal article