Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Janet A. Buchanan"'
Autor:
Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K. C. Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A. Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017)
Abstract Autism spectrum disorder is a developmental condition of early childhood onset, which impacts socio-communicative functioning and is principally genetic in etiology. Currently, more than 50 genomic loci are deemed to be associated with susce
Externí odkaz:
https://doaj.org/article/6f645d2b597b462baaaa4d7276b13e3f
Autor:
Si Lok, Tara A. Paton, Zhuozhi Wang, Gaganjot Kaur, Susan Walker, Ryan K. C. Yuen, Wilson W. L. Sung, Joseph Whitney, Janet A. Buchanan, Brett Trost, Naina Singh, Beverly Apresto, Nan Chen, Matthew Coole, Travis J. Dawson, Karen Ho, Zhizhou Hu, Sanjeev Pullenayegum, Kozue Samler, Arun Shipstone, Fiona Tsoi, Ting Wang, Sergio L. Pereira, Pirooz Rostami, Carol Ann Ryan, Amy Hin Yan Tong, Karen Ng, Yogi Sundaravadanam, Jared T. Simpson, Burton K. Lim, Mark D. Engstrom, Christopher J. Dutton, Kevin C. R. Kerr, Maria Franke, William Rapley, Richard F. Wintle, Stephen W. Scherer
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 755-773 (2017)
The Canadian beaver (Castor canadensis) is the largest indigenous rodent in North America. We report a draft annotated assembly of the beaver genome, the first for a large rodent and the first mammalian genome assembled directly from uncorrected and
Externí odkaz:
https://doaj.org/article/2b66b58c15d04d46bfd3af88bdababdc
Autor:
Peter Szatmari, Mayada Elsabbagh, Wendy K. Chung, Helen V. Firth, Ny Hoang, Jacques L. Michaud, Catalina Betancur, Janet A. Buchanan, Jennifer L. Howe, Jacob A. S. Vorstman, Louise Gallagher, Christian P. Schaaf, Edwin H. Cook, Joseph D. Buxbaum, Kira A. Dies, Olivia Rennie, Stephen W. Scherer, Raphael Bernier, Jeremy R. Parr, Ryan K. C. Yuen, Patrick Bolton, Thomas W. Frazier, Christian R. Marshall, Chun-An Chen, David Skuse
Publikováno v:
Nature Reviews Genetics
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, Nature Publishing Group, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Nature Reviews Genetics, Nature Publishing Group, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
International audience; Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e1ff1c53dc4ec82391729e2fb08a0fe
https://www.hal.inserm.fr/inserm-03133319/document
https://www.hal.inserm.fr/inserm-03133319/document
Publikováno v:
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-4 (2018)
NPJ Genomic Medicine
NPJ Genomic Medicine
Autor:
Jennifer L. Howe, Lia D’Abate, Zachary Warren, Stephen W. Scherer, Karen R. Dobkins, Ryan K. C. Yuen, John Wei, Janet A. Buchanan, Gregory S. Young, Kristiina Tammimies, Wendy L. Stone, Susan Walker, Bhooma Thiruvahindrapuram, Jessica Brian, S. E. Bryson, J. Leef, Robert W. Davies, Rebecca Landa, Sally J Ozonoff, Lonnie Zwaigenbaum, Isabel M. Smith, Daniel S. Messinger
Publikováno v:
Nature communications, vol 10, iss 1
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
Nature Communications
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD. Here, we describe clinical microarray findings for 253 longitudinally phenotyped ASD familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25090cdd9fde041385a6ef1f7046e42
https://escholarship.org/uc/item/4mb2q3tf
https://escholarship.org/uc/item/4mb2q3tf
Autor:
Tara Goodale, Wendy Roberts, Jason P. Lerch, Bridget A. Fernandez, Melissa T. Carter, Vorstman Jas, Flanagan J, Bhooma Thiruvahindrapuram, Lonnie Zwaigenbaum, Jennifer Crosbie, Paul D. Arnold, Christian R. Marshall, Drmic I, Muhammad Faheem, Rohan V. Patel, Russell Schachar, Jennifer L. Howe, Kozue Samler, Stephen W. Scherer, Lu C, Rob Nicolson, Janet A. Buchanan, Edward J Higginbotham, Tara Paton, Mayada Elsabbagh, Chan Ajs, Stelios Georgiades, Peter Szatmari, Cheryl Cytrynbaum, Bahareh A. Mojarad, Daniele Merico, Sylvia Lamoureux, Evdokia Anagnostou, Barbara Kellam, Xudong Liu, Dimitri J. Stavropoulos, Christie L. Burton, Brett Trost, Ny Hoang, MacDonald, Young Ej, Anne S. Bassett, Heung T, Worrawat Engchuan, Wang X, Richard F. Wintle, Gregory A. Costain, Yuen Rkc, Marc Woodbury-Smith, Maian Roifman, Giovanna Pellecchia, Susan Walker, David R. Rosenberg, John Wei, Rosanna Weksberg, Mehdi Zarrei, Miron K, Wang T, Gregory L. Hanna, Marsha Speevak
Publikováno v:
Paediatrics Publications
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-13 (2019)
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-13 (2019)
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among NDDs, but this is the first genome-wide CN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a786610f389afd143c4d95731aeb72e
https://ir.lib.uwo.ca/context/paedpub/article/2471/viewcontent/s41525_019_0098_3.pdf
https://ir.lib.uwo.ca/context/paedpub/article/2471/viewcontent/s41525_019_0098_3.pdf
Autor:
Wilson W L Sung, S. Mohsen Hosseini, Brett Trost, Stephen W. Scherer, John Wei, James Ellis, Jeffrey R. MacDonald, Sarah Bowdin, Janet A. Buchanan, M. Stephen Meyn, Miriam S. Reuter, Rohan V. Patel, Giovanna Pellecchia, Allison Hazell, Ryan A. Cook, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Jennifer L. Howe, Iris Cohn, Lisa J. Strug, Ryan K. C. Yuen, Peter Pasceri, Yvonne Bombard, Joe Whitney, Hin C. Lee, Tara Paton, Anne S. Bassett, Rosanna Weksberg, Jill Davies, Barbara Kellam, Dimitri J. Stavropoulos, Wei Wei, Christian R. Marshall, Cheryl Shuman, Marc Fiume, Fred W. Keeley, Richard F. Wintle, Matthew R. Hildebrandt, Jo Anne Herbrick, Zhuozhi Wang, Peter N. Ray, Thomas Nalpathamkalam, Ronald D. Cohn, Sherilyn L. Bell, Neal Sondheimer, Daniele Merico, Susan Walker, Ann M. Joseph-George, Melanie M. Mahtani, Asli Romm, Chao Lu, Michael J. Szego, Nasim Monfared
Publikováno v:
Canadian Medical Association Journal. 190:E126-E136
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. M
Autor:
Timothy Caulfield, Amy L McGuire, Mildred Cho, Janet A Buchanan, Michael M Burgess, Ursula Danilczyk, Christina M Diaz, Kelly Fryer-Edwards, Shane K Green, Marc A Hodosh, Eric T Juengst, Jane Kaye, Laurence Kedes, Bartha Maria Knoppers, Trudo Lemmens, Eric M Meslin, Juli Murphy, Robert L Nussbaum, Margaret Otlowski, Daryl Pullman, Peter N Ray, Jeremy Sugarman, Michael Timmons
Publikováno v:
PLoS Biology, Vol 6, Iss 3, p e73 (2008)
Externí odkaz:
https://doaj.org/article/9609233ff3334738a7c7a3a28e9bb8c6
Autor:
Richard F. Wintle, Karen Y. Ho, Zhuozhi Wang, Maria Franke, Sergio L. Pereira, Stephen W. Scherer, Joseph Whitney, Christopher J. Dutton, Matthew Coole, Janet A. Buchanan, Karen Ng, Ting Wang, Kevin C. R. Kerr, Susan Walker, Arum Shipstone, Wilson W L Sung, William Rapley, Yogi Sundaravadanam, Si Lok, Amy Hin Yan Tong, Pirooz Rostami, Travis J. Dawson, Burton K. Lim, Nan Chen, Sanjeev Pullenayegum, Ryan K. C. Yuen, Carol Ann Ryan, Kozue Samler, Fiona Tsoi, Jared T. Simpson, Naina Singh, Gaganjot Kaur, Brett Trost, Beverly Apresto, Mark D. Engstrom, Tara Paton, Zhizhou Hu
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 7, Iss 2, Pp 755-773 (2017)
G3: Genes|Genomes|Genetics
G3: Genes|Genomes|Genetics
The Canadian beaver (Castor canadensis) is the largest indigenous rodent in North America. We report a draft annotated assembly of the beaver genome, the first for a large rodent and the first mammalian genome assembled directly from uncorrected and
Autor:
Christian R. Marshall, Annette Estes, John Wei, Janet A. Buchanan, Jennifer L. Howe, Christina Chrysler, Weili Li, Tara Paton, Fiona Tsoi, Zhuozhi Wang, Brendan J. Frey, Eric Deneault, Edwin H. Cook, William Van Etten, Stephen W. Scherer, Mohammed Uddin, Mayada Elsabbagh, Emily Kirby, Sylvia Lamoureux, Cheryl Cytrynbaum, Bhooma Thiruvahindrapuram, Mathew T. Pletcher, Lonnie Zwaigenbaum, Wilson W L Sung, Angie Fedele, Daniele Merico, Bartha Maria Knoppers, Ryan K. C. Yuen, Marc Woodbury-Smith, Worrawat Engchuan, Vicki Seifer, Isabel M. Smith, Barbara Kellam, Bonnie Mackinnon Modi, Stephanie Koyanagi, Bridget A. Fernandez, James T. Robinson, Karen Ho, Edward J Higginbotham, Joe Whitney, Krissy A.R. Doyle-Thomas, Beth A. Malow, Susan Walker, Jeremy R. Parr, Louise Gallagher, Rob Nicolson, Jonathan Bingham, Thomas Nalpathamkalam, Lia D’Abate, Sanne Jilderda, Matt Bookman, Jessica Brian, Sarah J. Spence, Ann Thompson, Jonathan Leef, Rosanna Weksberg, Jacob A. S. Vorstman, Tal Savion-Lemieux, Anne Marie Tassé, Peter Szatmari, Alana Iaboni, Xudong Liu, Evdokia Anagnostou, Jeffrey R. MacDonald, Ny Hoang, Mehdi Zarrei, Lizhen Xu, Simon N. Twigger, Robert H. Ring, Stephen R. Dager, Melissa T. Carter, Irene Drmic, Michael J. Szego, Wendy Roberts, Lili Senman, Giovanna Pellecchia, Rohan V. Patel, Sergio L. Pereira, Joachim Hallmayer, David Glazer, Lisa J. Strug, Ada J.S. Chan, Nicole A. Deflaux
Publikováno v:
Nature Neuroscience, 20(4), 602. Nature Publishing Group
Paediatrics Publications
Paediatrics Publications
We are performing whole genome sequencing (WGS) of families with Autism Spectrum Disorder (ASD) to build a resource, named MSSNG, to enable the sub-categorization of phenotypes and underlying genetic factors involved. Here, we report WGS of 5,205 sam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63f8e721122ea3d6acab7f7535d5d8f
https://europepmc.org/articles/PMC5501701/
https://europepmc.org/articles/PMC5501701/