Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ada J.S. Chan"'
Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D’abate, Clarissa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma’n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Fully understanding the genetic factors involved in Autism Spectrum Disorder (ASD) requires whole-genome sequencing (WGS), which theoretically allows the detection of all types of genetic variants. With the aim of generating an unprecedented resource
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b717e0844196ee000bbf7582208abb19
https://doi.org/10.1101/2022.05.05.22274031
https://doi.org/10.1101/2022.05.05.22274031
Autor:
Jacob A. S. Vorstman, Evdokia Anagnostou, Daniele Merico, Jeffrey R. MacDonald, Jennifer L. Howe, Zhuozhi Wang, Ryan K. C. Yuen, Thomas Nalpathamkalam, Judith H. Miles, Carol Negrijn, Miriam S. Reuter, Neal Sondheimer, Bridget A. Fernandez, Stephen W. Scherer, Wilson W L Sung, Kristiina Tammimies, Rohan V. Patel, Worrawat Engchuan, Giovanna Pellecchia, Nicole Takahashi, Mehdi Zarrei, Ada J.S. Chan, Dimitri J. Stavropoulos, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, Brett Trost
Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major congenital anomalies, we categorized 325 Canadian children with ASD into dysmorphic and nondy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7de69aa76112317c617021b391f0c972
https://doi.org/10.1101/2021.10.20.21264950
https://doi.org/10.1101/2021.10.20.21264950
Autor:
Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D'Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma'n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer
Publikováno v:
Cell. 185:4409-4427.e18
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ad9e408a13971a4d30b81a0b6b80b6
https://doi.org/10.1016/j.cell.2022.10.009
https://doi.org/10.1016/j.cell.2022.10.009
Autor:
Elaine Cristina Zachi, Tatiana F. Almeida, Guilherme L. Yamamoto, Gabriele Campos, Mehdi Zarrei, Ada J.S. Chan, Eduarda Morgana da Silva Montenegro, Marilia O. Scliar, Isabela Maya Wahys Silva, Maria Rita Passos-Bueno, Claudia Ismania Samogy Costa, Stephen W. Scherer, Naila Cristina Vilaça Lourenço
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder (ASD). We evaluated the role of rare copy number variations (CNVs) and exon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d672c9934d3b4ab754313c0cbcdac61e
https://doi.org/10.1002/aur.2238
https://doi.org/10.1002/aur.2238
Autor:
Cyrus Boelman, Mohammed Uddin, Ammar Albanna, Ada J.S. Chan, Marc Woodbury-Smith, Stephen W. Scherer, Berge A. Minassian
Publikováno v:
G3: Genes|Genomes|Genetics
Mutations within STXBP1 have been associated with a range of neurodevelopmental disorders implicating the pleotropic impact of this gene. Although the frequency of de novo mutations within STXBP1 for selective cohorts with early onset epileptic encep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b0eab9ab922a07d86446bf926116d04
http://europepmc.org/articles/PMC5873902
http://europepmc.org/articles/PMC5873902
Autor:
Ny Hoang, Mohammed Uddin, Ada J.S. Chan, Rosanna Weksberg, Mehdi Zarrei, Irene Drmic, Ryan K. C. Yuen, Patricia Ambrozewicz, Susan Walker, Anne Ritzema, Cheryl Cytrynbaum, Russell Schachar, Stephen W. Scherer
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-10 (2019)
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-10 (2019)
De novo loss-of-function (LoF) variants in the KMT2A gene are associated with Wiedemann−Steiner Syndrome (WSS). Recently, de novo KMT2A variants have been identified in sequencing studies of cohorts of individuals with neurodevelopmental disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcee0647010789ea5f5895ff9903c731
https://doi.org/10.1038/s41525-019-0083-x
https://doi.org/10.1038/s41525-019-0083-x
Autor:
Stephen W. Scherer, Bhooma Thiruvahindrapuram, Sergio L. Pereira, Giovanna Pellecchia, Joe Whitney, Wilson W L Sung, Christian R. Marshall, Ada J.S. Chan, Jeffrey R. MacDonald, Susan Walker, Ryan K. C. Yuen, Daniele Merico, Brett Trost, Zhuozhi Wang, Si Lok, Miriam S. Reuter
Publikováno v:
American journal of human genetics. 102(1)
A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test has been accurate detection of copy-number variations (CNVs). Here, we used several datasets to empirically develop a detailed workflow for identifying germline CN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22d97058b15d9168be8d65ecff784968
https://pubmed.ncbi.nlm.nih.gov/29304372
https://pubmed.ncbi.nlm.nih.gov/29304372
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/
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more tha