Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants. by Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam, Jimmy Nguyen, Celine Salhab, Bhooma Thiruvahindrapuram, Jade Zhang, Madeline Couse, Taila Hartley, Michelle M Morrow, E Magda Price, Susan Walker, David Malkin, Frederick P Roth, Gregory Costain

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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing by Huayun Hou, Kyoko E. Yuki, Gregory Costain, Anna Szuto, Sierra Barnes, Arun K. Ramani, Alper Celik, Michael Braga, Meagan Gloven-Brown, Dimitri J. Stavropoulos, Sarah Bowdin, Ronald D. Cohn, Roberto Mendoza-Londono, Stephen W. Scherer, Michael Brudno, Christian R. Marshall, M. Stephen Meyn, Adam Shlien, James J. Dowling, Michael D. Wilson, Lianna Kyriakopoulou

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TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist by Christian R Marshall, Sonya Elango, Salma Shickh, Raymond H Kim, Kym M Boycott, Wendy J Ungar, Jasmin Bhawra, Viji Venkataramanan, Robin Z Hayeems, Gregory Costain, Caitlin Chisholm, Taila Hartley, Roberto Mendoza-Londono, Martin Somerville, Oana Caluseriu, Stacy Hewson, Kaitlin J Stanley, Meredith K Gillespie, Natalie del Signore, Gordon McSheffrey, Sarah L Sawyer, Alexandre White-Brown, Stephanie Telesca

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International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease by Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer

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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations by Trevor Jamieson, Kevin Thorpe, Francois Bernier, Melyssa Aronson, Marc Clausen, Rita Kodida, Emma Reble, June C Carroll, Jordan Lerner-Ellis, Yvonne Bombard, Matthew Osmond, Muhammad Mamdani, Ronald Cohn, Emily Seto, Hanna Faghfoury, Josh Silver, Maureen Smith, Lauren Chad, Jan M Friedman, Robin Z Hayeems, Michael Brudno, Gregory Costain, Quynh Pham, Anne-Marie Laberge, Christian Marshall, Cheryl Shuman, Rebekah Jobling, Irfan Dhalla, Serena Shastri-Estrada, Daniel Assamad, Stephanie Luca, Stacy Hewson, Eriskay Liston, Frank Rudzicz, Wendy Ungar, Guylaine D'Amours

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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort by Jamie C. Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Megan A. Dickson, Kyoko E. Yuki, Huayun Hou, Sydney Scholten, Kenzie Pulsifer, Meryl Acker, Meredith Laver, Harsha Murthy, Olivia M. Moran, Emily Bonnell, Nicole Liang, Jashanpreet Sidhu, Lucie Dupuis, Mohammad M. Ghahramani Seno, Care4Rare Canada Consortium, Marisa Chard, Rebekah K. Jobling, Jessie Cameron, Rose Chami, Michal Inbar-Feigenberg, Michael D. Wilson, David A. Chitayat, Kym M. Boycott, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Christian R. Marshall, James J. Dowling, Gregory Costain, Ashish R. Deshwar

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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. by Anthony R Isles, Andrés Ingason, Chelsea Lowther, James Walters, Micha Gawlick, Gerald Stöber, Elliott Rees, Joanna Martin, Rosie B Little, Harry Potter, Lyudmila Georgieva, Lucilla Pizzo, Norio Ozaki, Branko Aleksic, Itaru Kushima, Masashi Ikeda, Nakao Iwata, Douglas F Levinson, Pablo V Gejman, Jianxin Shi, Alan R Sanders, Jubao Duan, Joseph Willis, Sanjay Sisodiya, Gregory Costain, Thomas M Werge, Franziska Degenhardt, Ina Giegling, Dan Rujescu, Stefan J Hreidarsson, Evald Saemundsen, Joo Wook Ahn, Caroline Ogilvie, Santhosh D Girirajan, Hreinn Stefansson, Kari Stefansson, Michael C O'Donovan, Michael J Owen, Anne Bassett, George Kirov

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