Search Results - Wendy H. Raskind
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The effect of algorithms on copy number variant detection. by Debby W Tsuang, Steven P Millard, Benjamin Ely, Peter Chi, Kenneth Wang, Wendy H Raskind, Sulgi Kim, Zoran Brkanac, Chang-En Yu
Published in PLoS ONE (2010-12-01)Get full text
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Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. by Beate Peter, Ellen M Wijsman, Alejandro Q Nato, University of Washington Center for Mendelian Genomics, Mark M Matsushita, Kathy L Chapman, Ian B Stanaway, John Wolff, Kaori Oda, Virginia B Gabo, Wendy H Raskind
Published in PLoS ONE (2016-01-01)Get full text
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3
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts. by Nicola H Chapman, Patrick A Navas, Michael O Dorschner, Michele Mehaffey, Karen G Wigg, Kaitlyn M Price, Oxana Y Naumova, Elizabeth N Kerr, Sharon L Guger, Maureen W Lovett, Elena L Grigorenko, Virginia Berninger, Cathy L Barr, Ellen M Wijsman, Wendy H Raskind
Published in PLoS ONE (2025-01-01)Get full text
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Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants. by Jan Rehker, Johanna Rodhe, Ryan R Nesbitt, Evan A Boyle, Beth K Martin, Jenny Lord, Ilker Karaca, Adam Naj, Frank Jessen, Seppo Helisalmi, Hilkka Soininen, Mikko Hiltunen, Alfredo Ramirez, Martin Scherer, Lindsay A Farrer, Jonathan L Haines, Margaret A Pericak-Vance, Wendy H Raskind, Carlos Cruchaga, Gerard D Schellenberg, Bertrand Joseph, Zoran Brkanac
Published in PLoS ONE (2017-01-01)Get full text
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Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome by Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis
Published in Annals of Clinical and Translational Neurology (2023-06-01)Get full text
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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts by Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Published in Rare (2024-01-01)Get full text
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