Søgeresultater - Vijay Ganesh
- Showing 1 - 19 results of 19
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1
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex af Volney Sheen, Vijay Ganesh, Meral Topçu, Guillaume Sébire, Adria Bodell, Robert Hill, P. Ellen Grant, Yin Yao Shugart, Jaime Imitola, Samia J. Khoury, Renzo Guerrini, Christopher A. Walsh
Udgivet 2003Artigo -
2
Genomic and functional profiling of human Down syndrome neural progenitors implicates S100B and aquaporin 4 in cell injury af Giuseppe Esposito, Jaime Imitola, Jie Lu, Daniele De Filippis, Caterina Scuderi, Vijay Ganesh, Rebecca D. Folkerth, Jonathan L. Hecht, Soojung Shin, Teresa Iuvone, Jonathan D. Chesnut, Luca Steardo, Volney Sheen
Udgivet 2007Artigo -
3
A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts af Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katharine Clapham, Daniel P. Rakiec, Wen‐Hann Tan, Nadia Akawi, Muna Al‐Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam R. Ali, Lihadh Al‐Gazali, Christopher A. Walsh
Udgivet 2010Artigo -
4
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair af Jun Shen, Edward C. Gilmore, Christine A Marshall, Mary Haddadin, John J. Reynolds, Wafaa Eyaid, Adria Bodell, Brenda J. Barry, Danielle Gleason, Kathryn Allen, Vijay Ganesh, Bernard S. Chang, Arthur Grix, Robert Hill, Meral Topçu, Keith W. Caldecott, A. James Barkovich, Christopher A. Walsh
Udgivet 2010Artigo -
5
Enhanced Virus Detection and Metagenomic Sequencing in Patients with Meningitis and Encephalitis af Anne Piantadosi, Shibani S. Mukerji, Simon Ye, Michael J. Leone, Lisa M. Freimark, Daniel Park, Gordon Adams, Jacob E. Lemieux, Sanjat Kanjilal, Isaac H. Solomon, Asim A. Ahmed, Robert H. Goldstein, Vijay Ganesh, Bridget Ostrem, Kaelyn C. Cummins, Jesse Thon, Cormac M. Kinsella, Eric Rosenberg, Matthew P. Frosch, Marcia B. Goldberg, Tracey Cho, Pardis Sabeti
Udgivet 2021Artigo -
6
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development af Ganeshwaran H. Mochida, Vijay Ganesh, María I. de Michelena, Hugo Dias, Kutay Deniz Atabay, Katie L. Kathrein, Hsuan-Ting Huang, Robert Hill, Jillian M. Felie, Daniel P. Rakiec, Danielle Gleason, Anthony D. Hill, Athar N. Malik, Brenda J. Barry, Jennifer N. Partlow, Wen‐Hann Tan, Laurie Glader, A. James Barkovich, William B. Dobyns, Leonard I. Zon, Christopher A. Walsh
Udgivet 2012Artigo -
7
Rapid Detection of Powassan Virus in a Patient With Encephalitis by Metagenomic Sequencing af Anne Piantadosi, Sanjat Kanjilal, Vijay Ganesh, Arjun Khanna, Emily P. Hyle, Jonathan Rosand, Tyler D. Bold, Hayden C. Metsky, Jacob E. Lemieux, Michael J. Leone, Lisa M. Freimark, Christian B. Matranga, Gordon Adams, Graham McGrath, Siavash Zamirpour, Sam R. Telford, Eric Rosenberg, Tracey Cho, Matthew P. Frosch, Marcia B. Goldberg, Shibani S. Mukerji, Pardis C. Sabeti
Udgivet 2017Artigo -
8
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles af Michael E. Coulter, Cristina M. Dorobantu, Gerrald A. Lodewijk, François Delalande, Sarah Cianférani, Vijay Ganesh, Richard S. Smith, Elaine T. Lim, C. Shan Xu, Song Pang, Eric T. Wong, Hart G.W. Lidov, Monica L. Calicchio, Edward Yang, Dilenny M. Gonzalez, Thorsten M. Schlaeger, Ganeshwaran H. Mochida, Harald F. Hess, Wei-Chung Allen Lee, Maria K. Lehtinen, Tomas Kirchhausen, David Haussler, Frank M. J. Jacobs, Raphaël Gaudin, Christopher A. Walsh
Udgivet 2018Artigo -
9
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy af Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth A. Stafki, Elicia Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay Ganesh, Anne O’Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
Udgivet 2022Artigo -
10
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development af Richard S. Smith, Connor Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, Robert Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna‐Kaisa Anttonen, Jaakko Ignatius, Līvija 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
Udgivet 2018Artigo -
11
Genome and <scp>RNA</scp> sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone af Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay Ganesh, Roula Ghaoui, Kristi Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O’Donnell‐Luria, Gina O’Grady, Ikeoluwa Osei‐Owusu, Haloom Rafehi, Stephen Reddel, Richard Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Udgivet 2024Artigo -
12
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases af Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei‐Owusu, Lynn Pais, Emily O’Heir, Christina Austin‐Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Göknur Haliloğlu, Eric A. Pierce, Emily Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Éric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell‐Luria
Udgivet 2025Artigo -
13
Metagenomic sequencing with spiked primer enrichment for viral diagnostics and genomic surveillance af Xianding Deng, Asmeeta Achari, Scot Federman, Guixia Yu, Sneha Somasekar, Inês Bártolo, Shigeo Yagi, Placide Mbala‐Kingebeni, Jimmy Kapetshi, Steve Ahuka‐Mundeke, Jean‐Jacques Muyembé‐Tamfum, Asim A. Ahmed, Vijay Ganesh, Manasi Tamhankar, Jean L. Patterson, Nicaise Ndembi, Dora Mbanya, Lazare Kaptué, 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
Udgivet 2020Artigo -
14
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease af Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk, Emily Groopman, Isaac Wong, Eleina England, Julia K. Goodrich, Lynn Pais, Christina Austin‐Tse, Stephanie DiTroia, Emily O’Heir, Vijay Ganesh, Monica H. Wojcik, Emily Evangelista, Hana Snow, Ikeoluwa Osei‐Owusu, Jack Fu, Mugdha Singh, Yulia Mostovoy, Steve S. Huang, Kiran Garimella, Samantha L. Kirkham, Jennifer E. Neil, Diane D. Shao, Christopher A. Walsh, Emanuela Argilli, Carolyn Le, Elliott H. Sherr, Joseph G. Gleeson, Shirlee Shril, Ronen Schneider, Friedhelm Hildebrandt, Vijay G. Sankaran, Jill A. Madden, Casie A. Genetti, Alan H. Beggs, Pankaj B. Agrawal, Kinga M. Bujakowska, Emily Place, Eric A. Pierce, Sandra Donkervoort, Carsten G. Bönnemann, Lyndon Gallacher, Zornitza Stark, Tiong Yang Tan, Susan M. White, Ana Töpf, Volker Straub, Mark D. Fleming, Martin R. Pollak, Katrin Õunap, Sander Pajusalu, Kirsten A. Donald, Zandrè Bruwer, Gianina Ravenscroft, Nigel G. Laing, Daniel G. MacArthur, Heidi L. Rehm, Michael E. Talkowski, Harrison Brand, Anne O’Donnell‐Luria
Udgivet 2024Artigo -
15
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project af Sarah L. Stenton, Melanie O’Leary, Gabrielle Lemire, Grace E. VanNoy, Stephanie DiTroia, Vijay Ganesh, Emily Groopman, Emily O’Heir, Brian Mangilog, Ikeoluwa Osei‐Owusu, Lynn Pais, Jillian Serrano, Moriel Singer‐Berk, Ben Weisburd, Michael W. Wilson, Christina Austin‐Tse, Marwa Abdelhakim, Azza Althagafi, Giulia Babbi, Riccardo Bellazzi, Samuele Bovo, Maria Giulia Carta, Rita Casadio, Pieter-Jan Coenen, Federica De Paoli, Matteo Floris, Manavalan Gajapathy, Robert Hoehndorf, Julius O.B. Jacobsen, Thomas Joseph, Akash Kamandula, Panagiotis Katsonis, Cyrielle Kint, Olivier Lichtarge, Ivan Limongelli, Yulan Lu, Paolo Magni, Tarun Karthik Kumar Mamidi, Pier Luigi Martelli, M. Mulargia, Giovanna Nicora, Keith Nykamp, Vikas Pejaver, Yisu Peng, Thi Hong Cam Pham, Maurizio Podda, Aditya Rao, Ettore Rizzo, Vangala G. Saipradeep, Castrense Savojardo, Peter Schols, Yang Shen, Naveen Sivadasan, Damian Smedley, Dorian Soru, Rajgopal Srinivasan, Yuanfei Sun, Uma Sunderam, Wuwei Tan, Naina Tiwari, Xiao Wang, Yaqiong Wang, Amanda M. Williams, Elizabeth A. Worthey, Rujie Yin, Yuning You, Daniel Zeiberg, Susanna Zucca, Constantina Bakolitsa, Steven E. Brenner, Stephanie M. Fullerton, Predrag Radivojac, Heidi L. Rehm, Anne O’Donnell‐Luria
Udgivet 2024Artigo -
16
Centers for Mendelian Genomics: A decade of facilitating gene discovery af Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci
Udgivet 2022Revisão -
17
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death af Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville
Udgivet 2023Artigo -
18
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions af Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine De Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael H. Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman
Udgivet 2023Revisão -
19
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria af Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo
Udgivet 2023Artigo
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Biology
Genetics
Gene
Medicine
Computational biology
DNA sequencing
Exome sequencing
Exome
Genome
Bioinformatics
Cell biology
Mutation
Pathology
Stem cell
Computer science
Gene expression
Genetic testing
Mendelian inheritance
Metagenomics
Phenotype
Progenitor cell
Virology
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Cerebral cortex
Chemistry
DNA
Disease
Encephalitis
Epilepsy
Genomics