Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Gregory, Costain"'
Autor:
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-24 (2024)
Abstract Hypomyelinating leukodystrophy (HLD) is an autosomal recessive disorder characterized by defective central nervous system myelination. Exome sequencing of two siblings with severe cognitive and motor impairment and progressive hypomyelinatio
Externí odkaz:
https://doaj.org/article/3f6584a19f4b41cfbb1ed508918c473a
Autor:
Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-8 (2024)
Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational prio
Externí odkaz:
https://doaj.org/article/eae52b7f6c0e4510972101b0a0c567aa
Autor:
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
Publikováno v:
BMJ Open, Vol 14, Iss 9 (2024)
Introduction Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models
Externí odkaz:
https://doaj.org/article/8affa2793f8c4b6b9384324d8a29b5cd
Autor:
Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100299- (2024)
Summary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion
Externí odkaz:
https://doaj.org/article/e106843364294daeb3b48f75146bc982
Autor:
Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain about which patient populations are most amenable to GS as a first-line diagnostic test. To address this, the Medical G
Externí odkaz:
https://doaj.org/article/27365d57311546bc828aa98a13d450ea
Autor:
David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101068- (2024)
Externí odkaz:
https://doaj.org/article/da13f9ba7b74444b8558dcca41060f10
Autor:
Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101145- (2024)
Externí odkaz:
https://doaj.org/article/e9a17f9808f349fcb2d6ede4cec52b9c
Autor:
Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101201- (2024)
Externí odkaz:
https://doaj.org/article/0dc5befeb4cf4ec2b4d482f19074447e
Autor:
Wendy Ungar, Vercancy Wu, Christian Marshall, Jackie Hwang, Robin Hayeems, Kate Tsiplova, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri Stavropoulos, Viji Venkataramanan, Bowen Xiao, Sheena Li, Gregory Costain, Melanie Beaulieu Bergeron, Sarah Sawyer, Lynette Lau, Lijia Huang, Roberto Mendoza-Londono, Brian Smith, Edward Higginbotham, Martin Somerville, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101365- (2024)
Externí odkaz:
https://doaj.org/article/3031b497e1034a96a0e6104670aa93a3
Autor:
Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Saumeh Saeedi, Daena Hirjikaka, Lauren Chad, Gregory Costain, Hanna Faghfoury, Josh Silver, Serena Shastri-Estrada, Maureen Smith, Robin Hayeems, Yvonne Bombard
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101415- (2024)
Externí odkaz:
https://doaj.org/article/37d509ccba0b423d980305362a05bf0a