Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sanne Jilderda"'
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:
Jessica Brian, Abbie Solish, Erin Dowds, Ian Roth, Kate Bernardi, Kate Perry, Sara Daoud, Sanne Jilderda, Stacey MacWilliam, Isabel M Smith, Lonnie Zwaigenbaum, Susan Bryson
Publikováno v:
J Autism Dev Disord
Evidence supports early intervention for toddlers with ASD, but barriers to access remain, including system costs, workforce constraints, and a range of family socio-demographic factors. An urgent need exists for innovative models that maximize resou
Autor:
Jessica Brian, Abbie Solish, Erin Dowds, Ian Roth, Kate Bernardi, Kate Perry, Sara Daoud, Sanne Jilderda, Stacey MacWilliam, Isabel M. Smith, Lonnie Zwaigenbaum, Susan Bryson
Publikováno v:
Journal of Autism and Developmental Disorders. 52:5221-5221
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:
Caroline Roncadin, Jessica Brian, Bonnie MacKinnon, Peter Szatmari, Sanne Jilderda, Lori-Ann R. Sacrey, Theresa McCormick, Vickie Armstrong, Wendy Roberts, Tracy Vaillancourt, Christopher Novak, Susan E. Bryson, Lonnie Zwaigenbaum, Isabel M. Smith, Nancy Garon
Publikováno v:
Journal of the American Academy of Child and Adolescent Psychiatry. 54(6)
Objective This prospective study characterized parents' concerns about infants at high risk for developing autism spectrum disorder (ASD; each with an older sibling with ASD) at multiple time points in the first 2 years, and assessed their relation t
Autor:
Melissa Carter, Dimitri J. Stavropoulos, Bonnie MacKinnon, Irene Drmic, Pooja Swaroop, Sanne Jilderda, Breanne Dale, Anne S. Bassett, Abdul Noor, Jhoan Falcon
Publikováno v:
Journal of Medical Genetics. 52:A2.3-A3
Background Microdeletion of the BP1-BP2 region on chromosome 15q11.2 is one of the most commonly reported copy number variants (CNVs) in the clinical population. It has been suggested that this deletion may impact cognitive, behavioural, and neurolog