Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bonnie Mackinnon Modi"'
Autor:
Irene E. Drmic, Bonnie MacKinnon Modi, Beth McConnell, Sanne Jilderda, Ny Hoang, Abdul Noor, Anne S. Bassett, Marsha Speevak, Dimitri J. Stavropoulos, Melissa T. Carter
Publikováno v:
American Journal of Medical Genetics Part A. 188:2999-3008
Microduplication of the LCR22-A to LCR22-D region on chromosome 22q11.2 is a recurrent copy number variant found in clinical populations undergoing chromosomal microarray, and at lower frequency in controls. Often inherited, there is limited data on
Autor:
Sanne Jilderda, Dale B, Stephen W. Scherer, Melissa T. Carter, Bhooma Thiruvahindrapuram, Susan Walker, McConnell B, Irene Drmic, Ny Hoang, Bonnie Mackinnon Modi, Falcon J, Swaroop P, Dimitri J. Stavropoulos
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-5 (2017)
NPJ Genomic Medicine
NPJ Genomic Medicine
Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insigh
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/
Autor:
Jessica Brian, Peter Szatmari, Bonnie Mackinnon Modi, Nadia Tanel, Ghassan Abu Kuwaik, Wendy Roberts, Lonnie Zwaigenbaum, Isabel M. Smith, Susan E. Bryson
Publikováno v:
Autism. 18:148-155
Background:Parental concerns persist that immunization increases the risk of autism spectrum disorder, resulting in the potential for reduced uptake by parents of younger siblings of children with autism spectrum disorder (“younger sibs”).Objecti