Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jo Anne Herbrick"'
Autor:
Richard D. Corbett, Robert Eveleigh, Joe Whitney, Namrata Barai, Mathieu Bourgey, Eric Chuah, Joanne Johnson, Richard A. Moore, Neda Moradin, Karen L. Mungall, Sergio Pereira, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Richard F. Wintle, Jiannis Ragoussis, Lisa J. Strug, Jo-Anne Herbrick, Naveed Aziz, Steven J. M. Jones, Mark Lathrop, Stephen W. Scherer, Alfredo Staffa, Andrew J. Mungall
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Population sequencing often requires collaboration across a distributed network of sequencing centers for the timely processing of thousands of samples. In such massive efforts, it is important that participating scientists can be confident that the
Externí odkaz:
https://doaj.org/article/6d3b633afd534eac825a2ae7518681de
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
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:
Sergio L. Pereira, Jo-Anne Herbrick, Joanne Johnson, Stephen W. Scherer, Karen Mungall, Robert Eveleigh, Eric Chuah, Richard F. Wintle, Richard D. Corbett, Naveed Aziz, Richard A Moore, Joe Whitney, Mathieu Bourgey, Namrata Barai, Bhooma Thiruvahindrapuram, Neda Moradin, Lisa J. Strug, Jiannis Ragoussis, Alfredo Staffa, Mark Lathrop, Andrew J. Mungall, Steven J.M. Jones, Miriam S. Reuter
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)
Frontiers in Genetics, Vol 11 (2020)
Population sequencing often requires collaboration across a distributed network of sequencing centers for the timely processing of thousands of samples. In such massive efforts, it is important that participating scientists can be confident that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2426065b592967a326b128fa233335c
http://europepmc.org/articles/PMC7736078
http://europepmc.org/articles/PMC7736078
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2df1093bd60b4a1ff0d0715877c4f3
https://doi.org/10.1503/cmaj.171151
https://doi.org/10.1503/cmaj.171151
Publikováno v:
LymphoSign Journal. 2:147-155
Background: Combined immunodeficiency (CID) presents in infancy with severe microbial infections due to either the depletion or dysfunction of lymphocytes. Several mutated genes have been implicated in causing this condition. These encoded proteins a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a01e65fdf57743ce62aa78523f3cd5c6
https://doi.org/10.14785/lpsn-2015-0005
https://doi.org/10.14785/lpsn-2015-0005
Autor:
Peter N. Cox, Daniele Merico, Vy Hong-Diep Kim, Chaim M. Roifman, Bhooma Thiruvahindrapuram, Jo-Anne Herbrick, Bo Ngan, Thomas Nalpathamkalam, Andrea Bates, Julia Upton, Nufar Marcus
Publikováno v:
LymphoSign Journal. :10-26
Introduction: Genetic aberrations associated with combined immunodeficiency have been increasingly identified in the past two decades. Yet, there are still 30% of these patients with unidentified genetic cause.Methods: We employed whole genome sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::470d411340e82e0b35b4d9410340b30f
https://doi.org/10.14785/lpsn-2014-0002
https://doi.org/10.14785/lpsn-2014-0002
Autor:
Nigel Sharfe, Amit Nahum, Andrea Newell, Harjit Dadi, Bo Ngan, Sergio L. Pereira, Jo-Anne Herbrick, Chaim M. Roifman
Publikováno v:
Journal of Allergy and Clinical Immunology. 133:807-817
Background Mutations in the gene for the signal transducer and activator of transcription 1, STAT1, have been shown to be associated with death at an early age due to overwhelming viral infection (complete STAT1 deficiency) or, more commonly, selecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e674b298c7b4fcafc2336ba7fea192
https://doi.org/10.1016/j.jaci.2013.09.032
https://doi.org/10.1016/j.jaci.2013.09.032
Autor:
Nigel Sharfe, Jo-Anne Herbrick, Harjit Dadi, Chaim M. Roifman, David Chitayat, Sergio Grinstein, Ariana Karanxha, Spencer A. Freeman, Daniele Merico
Publikováno v:
The Journal of allergy and clinical immunology. 142(2)
Background We previously reported a novel syndrome characterized by combined immunodeficiency associated with severe developmental defects—subsequently known as Roifman-Chitayat syndrome (RCS; OMIM 613328). Linkage analysis identified 2 disease-ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40d78ce989230ce51e4918277fbc3316
https://pubmed.ncbi.nlm.nih.gov/29180244
https://pubmed.ncbi.nlm.nih.gov/29180244
Autor:
Bhooma Thiruvahindrapuram, Benjamin J. Blencowe, Alyson Kakakios, Maian Roifman, Thomas Nalpathamkalam, Raymond Buncic, Jane Peake, Brenda Reid, Andrea Bates, Stephanie Hogarth, Daniele Merico, Stephen W. Scherer, Ulrich Braunschweig, Paul Gray, Chaim M. Roifman, Sergio L. Pereira, David Manson, Jo-Anne Herbrick, Zhuozhi Wang, Ryan K. C. Yuen, Roumiana Alexandrova
Publikováno v:
Nature Communications
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heteroz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d542ad3671223e422058a52287dadd45
https://pubmed.ncbi.nlm.nih.gov/26522830
https://pubmed.ncbi.nlm.nih.gov/26522830