Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Lia D'abate"'
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:
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
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:
Balazs V. Varga, Peter Pasceri, Deivid C. Rodrigues, Muhammad Faheem, Ryan K. C. Yuen, P. Joel Ross, James Ellis, Eric Deneault, Stephen W. Scherer, Kirill Zaslavsky, Alina Piekna, Marat Mufteev, Andras Nagy, Wen-Bo Zhang, Michael W. Salter, Rebecca Landa, Lia D’Abate, Rebecca S.F. Mok, Wei Wei
Publikováno v:
Biol Psychiatry
Background The Xp22.11 locus that encompasses PTCHD1, DDX53, and the long noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum disorder (ASD), but the functional consequences of these genetic risk factors for ASD are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a295f51702bf56aa6ae2c089180721e
https://europepmc.org/articles/PMC6948145/
https://europepmc.org/articles/PMC6948145/
Autor:
Rosanna Weksberg, Bhooma Thiruvahindrapuram, Matthew J. Gazzellone, Robert H. Ring, Lonnie Zwaigenbaum, Mehdi Zarrei, Ryan K. C. Yuen, Peter Szatmari, Bridget A. Fernandez, Jennifer L. Howe, Christina Chrysler, Susan Walker, Daniele Merico, Kristiina Tammimies, Ann Thompson, Lia D’Abate, Mohammed Uddin, Ny Hoang, Richard S C Liu, Giovanna Pellecchia, Yi Liu, Melissa T. Carter, Wendy Roberts, Eric Deneault, Stephen W. Scherer, Christian R. Marshall, Peter N. Ray, Thomas Nalpathamkalam
Publikováno v:
Nature Medicine. 21:185-191
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of susceptibility loci. Previous microarray and exome-sequencing studies have examined portions of the genome in simplex families (parents and one ASD-affected ch
Autor:
Marc Woodbury-Smith, E. Robert Wassman, Nadeem Murtaza, James Stavropoulos, Stephen W. Scherer, Erin Harward, Vickie Kwan, Sylvia Lamoureux, Biren M. Dave, Leon Chalil, Marsha Speevak, Nicholas Holzapfel, Lia D’Abate, Sean H. White, Jacob Nielsen, Mohammed Uddin, Thomas Nalpathamkalam, Brad Doble, Karun K. Singh, John Wei, Kristin J Hope, Giovanna Pellecchia, Brianna K. Unda, Karen S. Ho
Publikováno v:
American Journal of Human Genetics
Copy-number variations (CNVs) are strong risk factors for neurodevelopmental and psychiatric disorders. The 15q13.3 microdeletion syndrome region contains up to ten genes and is associated with numerous conditions, including autism spectrum disorder
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:
Stephen W. Scherer, Bhooma Thiruvahindrapuram, Ann M. Joseph-George, Peter Kannu, Emmanuelle Lemyre, Ada Chan, Susan Walker, Mary Shago, Grace Yoon, Janet A. Buchanan, Abdul Noor, Lia D’Abate, Christian R. Marshall, Melissa T. Carter, Sonia Nizard, Mehdi Zarrei, Géraldine Mathonnet, Kristiina Tammimies, Thomas Nalpathamkalam, Ryan K. C. Yuen, Mohammed Uddin, Frédérique Tihy, Daniele Merico, Dimitri J. Stavropoulos, Giovanna Pellecchia, Matthew J. Gazzellone, Erik C. Thorland, Koenraad Devriendt, Marsha Speevak
Publikováno v:
Scientific Reports
A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage effects in neurodevelopmental disorders prompted us to develop a com
Autor:
Jun Wang, Christian R. Marshall, Bhooma Thiruvahindrapuram, Brendan J. Frey, Lonnie Zwaigenbaum, Mohammed Uddin, Ryan K. C. Yuen, Yingrui Li, Wendy Roberts, Dandan Cao, Lia D’Abate, Xiaomin Liu, Xueli Wu, Matt Bookman, Zhuozhi Wang, Ada Js Chan, Michelle T. Siu, Kristiina Tammimies, Ze Zhou, Jonathan Bingham, Hongzhi Cao, David Glazer, Rosanna Weksberg, Yuhui Sun, Susan Walker, Evdokia Anagnostou, Jeffrey R. MacDonald, Daniele Merico, Samuel S Gross, Mehdi Zarrei, Dion Loy, Giovanna Pellecchia, Thomas Nalpathamkalam, Babak Alipanahi, Xun Xu, Xin Jin, Tao Zhang, Mathew T. Pletcher, Xin Tong, Eric Deneault, Stephen W. Scherer, Jian Wang, Peter Szatmari, Robert H. Ring, Mingbang Wang, Huanming Yang, Jennifer L. Howe, Bridget A. Fernandez
Publikováno v:
NPJ Genomic Medicine
De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here, we performed whole-genome sequencing (WGS) of 200 ASD parent–child trios and characteris
Autor:
Rosanna Weksberg, Lynette Lau, Kathy Whitten, Mohammed Uddin, Marc Woodbury-Smith, Bridget A. Fernandez, Brian Tsang, Ryan K. C. Yuen, Susan Walker, Stephen W. Scherer, Lia D’Abate, Cathy Vardy, Bhooma Thiruvahindrapuram, Lonnie Zwaigenbaum, Susan Stuckless, Dimitri J. Stavropoulos, Gaganjot Kaur, Zhuozhi Wang, John Wei, Jennifer L. Howe, Kristiina Tammimies, Daniele Merico, Winnie W. L. Tong, Christian R. Marshall, Evdokia Anagnostou, Tyna Doyle, Peter Szatmari, Wendy Roberts, Victoria Crosbie, Melissa T. Carter, Matthew J. Gazzellone, Sandra Luscombe, Anath C. Lionel, Wilson W L Sung
Publikováno v:
JAMA. 314:895
Importance The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. Objective To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogen