Search Results - Ny Hoang

  • Showing 1 - 11 results of 11
Refine Results
  1. 1
    Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling

    Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling by Robin Z. Hayeems, Riyana Babul‐Hirji, Ny Hoang, Rosanna Weksberg, Cheryl Shuman

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

    Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes by Marc Woodbury‐Smith, Rob Nicolson, Mehdi Zarrei, Ryan K. C. Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A. Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

    Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants by Ada J. S. Chan, Cheryl Cytrynbaum, Ny Hoang, Patricia Ambrozewicz, Rosanna Weksberg, Irene Drmic, Anne M. Ritzema, Russell Schachar, Susan Walker, Mohammed Uddin, Mehdi Zarrei, Ryan K. C. Yuen, Stephen W. Scherer

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly by Marc Woodbury‐Smith, Éric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Péter Szatmári, Stephen W. Scherer

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

    Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders by Siddharth Srivastava, Jamie Love‐Nichols, Kira A. Dies, David H. Ledbetter, Christa Lese Martin, Wendy K. Chung, Helen V. Firth, Thomas Frazier, Robin Hansen, Lisa M. Prock, Han G. Brunner, Ny Hoang, Stephen W. Scherer, Mustafa Şahin, David T. Miller

    Published 2019
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  6. 6
    A framework for an evidence-based gene list relevant to autism spectrum disorder

    A framework for an evidence-based gene list relevant to autism spectrum disorder by Christian P. Schaaf, Catalina Betancur, Ryan K. C. Yuen, Jeremy Parr, David Skuse, Louise Gallagher, Raphael Bernier, Janet A. Buchanan, Joseph D. Buxbaum, Chun‐An Chen, Kira A. Dies, Mayada Elsabbagh, Helen V. Firth, Thomas Frazier, Ny Hoang, Jennifer Howe, Christian R. Marshall, Jacques L. Michaud, Olivia Rennie, Peter Szatmari, Wendy K. Chung, Patrick Bolton, Edwin H. Cook, Stephen W. Scherer, Jacob Vorstman

    Published 2020
    Get full text
    Revisão
    Save to List
    Saved in:
  7. 7
    Genome-wide detection of tandem DNA repeats that are expanded in autism

    Genome-wide detection of tandem DNA repeats that are expanded in autism by Brett Trost, Worrawat Engchuan, Charlotte Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A. Mojarad, Yue Yin, Alona Dov, Induja Chandrakumar, Tanya Prasolava, Natalie Shum, Omar Hamdan, Giovanna Pellecchia, Jennifer Howe, Joseph Whitney, Eric W. Klee, Saurabh Baheti, David G. Amaral, Evdokia Anagnostou, Mayada Elsabbagh, Bridget A. Fernandez, Ny Hoang, M. E. Suzanne Lewis, Xudong Liu, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, David Glazer, Dean M. Hartley, A. Keith Stewart, Michael A. Eberle, Nozomu Sato, Christopher E. Pearson, Stephen W. Scherer, Ryan K. C. Yuen

    Published 2020
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    A large data resource of genomic copy number variation across neurodevelopmental disorders

    A large data resource of genomic copy number variation across neurodevelopmental disorders by Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edwin J. Young, Edward J. Higginbotham, Jeffrey R. MacDonald, Brett Trost, Ada J. S. Chan, Susan Walker, Sylvia Lamoureux, Tracy Heung, Bahareh A. Mojarad, Barbara Kellam, Tara Paton, Muhammad Faheem, Karin Miron, Chao Lu, Ting Wang, Kozue Samler, Xiaolin Wang, Gregory Costain, Ny Hoang, Giovanna Pellecchia, John Wei, Rohan Patel, Bhooma Thiruvahindrapuram, Maian Roifman, Daniele Merico, Tara Goodale, Irene Drmic, Marsha Speevak, Jennifer Howe, Ryan K. C. Yuen, Janet A. Buchanan, Jacob Vorstman, Christian R. Marshall, Richard F. Wintle, David R. Rosenberg, Gregory L. Hanna, Marc Woodbury‐Smith, Cheryl Cytrynbaum, Lonnie Zwaigenbaum, Mayada Elsabbagh, Janine Flanagan, Bridget A. Fernandez, Melissa T. Carter, Peter Szatmari, Wendy Roberts, Jason P. Lerch, Xudong Liu, Rob Nicolson, Stelios Georgiades, Rosanna Weksberg, Paul Arnold, Anne S. Bassett, Jennifer Crosbie, Russell Schachar, Dimitri J. Stavropoulos, Evdokia Anagnostou, Stephen W. Scherer

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

    Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder by Ryan K. C. Yuen, Daniele Merico, Matt Bookman, Jennifer Howe, Bhooma Thiruvahindrapuram, Rohan Patel, J. Andrew Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang, Giovanna Pellecchia, Janet A. Buchanan, Susan Walker, Christian R. Marshall, Mohammed Uddin, Mehdi Zarrei, Éric Deneault, Lia D’Abate, Ada J. S. Chan, Stephanie Koyanagi, Tara Paton, Sérgio L. Pereira, Ny Hoang, Worrawat Engchuan, Edward J. Higginbotham, Karen Ho, Sylvia Lamoureux, Weili Li, Jeffrey R. MacDonald, Thomas Nalpathamkalam, Wilson W. L. Sung, Fiona J. Tsoi, John Wei, Lizhen Xu, Anne-Marie Tasse, Emily Kirby, William Van Etten, Simon Twigger, Wendy Roberts, Irene Drmic, Sanne Jilderda, Bonnie MacKinnon Modi, Barbara Kellam, Michael J. Szego, Cheryl Cytrynbaum, Rosanna Weksberg, Lonnie Zwaigenbaum, Marc Woodbury‐Smith, Jessica Brian, Lili Senman, Alana Iaboni, Krissy A.R. Doyle‐Thomas, Ann Thompson, Christina Chrysler, Jonathan Leef, Tal Savion‐Lemieux, Isabel M. Smith, Xudong Liu, Rob Nicolson, Vicki Seifer, Angie Fedele, Edwin H. Cook, Stephen R. Dager, Annette Estes, Louise Gallagher, Beth A. Malow, Jeremy Parr, Sarah Spence, Jacob Vorstman, Brendan J. Frey, James Robinson, Lisa J. Strug, Bridget A. Fernandez, Mayada Elsabbagh, Melissa T. Carter, Joachim Hallmayer, Bartha Maria Knoppers, Evdokia Anagnostou, Peter Szatmari, Robert H. Ring, David Glazer, Mathew T. Pletcher, Stephen W. Scherer

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature by Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna Weksberg

    Published 2021
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Genomic architecture of autism from comprehensive whole-genome sequence annotation

    Genomic architecture of autism from comprehensive whole-genome sequence annotation by Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe, Lívia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, J. Andrew Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan 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, Sérgio 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 Frazier, Jacob Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M. E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K. C. Yuen, Evdokia Anagnostou

    Published 2022
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: