Gregory Costain (Anne S Bassett)

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 29

Top Topics

Dna Methylation

Top Venues

NPJ genomic medicine

Archives of disease in childhood

Journal of medical genetics

Brain : a journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John W Belmont, David Bick, David P Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J Taft
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ genomic medicine 9 (1) (2024)
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
A comparative medical genomics approach may facilitate the interpretation of rare missense variation. Journal of medical genetics (2024)
Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John W Belmont, David Bick, David P Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J Taft
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ genomic medicine 9 (1) (2024)
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
A comparative medical genomics approach may facilitate the interpretation of rare missense variation. Journal of medical genetics 61 (8) (2024)
Kristen M Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L Taylor, John W Belmont, David Bick, David P Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J Taft
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ genomic medicine 9 (1) (2024)
Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M D'Gama, Katherine Howell, Nicole S Y Liang, Amy McTague, Annapurna H Poduri, Kimberly Wiltrout, null null, Anne Susan Bassett, John Chrisodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A S Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ genomic medicine 9 (1) (2024)
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
A comparative medical genomics approach may facilitate the interpretation of rare missense variation. Journal of medical genetics 61 (8) (2024)
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain
A comparative medical genomics approach may facilitate the interpretation of rare missense variation. Journal of medical genetics 61 (8) (2024)
Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M D'Gama, Katherine Howell, Nicole S Y Liang, Amy McTague, Annapurna H Poduri, Kimberly Wiltrout, null null, Anne Susan Bassett, John Chrisodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A S Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ genomic medicine 9 (1) (2024)
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Tzung-Chien Hsieh, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas Johannes Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna Marta Hajdukowicz, Franziska Thiel, Sophie Möller, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Ingrid Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill Anne Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, C M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay Swanson, Carrie Costin, Rebekah K Jobling, John G Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen Muraresku, Davit Babikyan, Zdenek Sedlacek, Miroslava Hancarova, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Genevieve, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Hussain Sabir, Derek Lim, Mark Hamilton, Lisa Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna Maria Cueto-González, Eduardo Fidel Tizzano, David Gomez Andres, Marta Codina Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah Jurgensmeyer, Anne M McRae, Mathieu Kent Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Amélie Bosc-Rosati, Julien Marcoux, Marie-Pierre Bousquet, Jeremie Poschmann, Frederic Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Arnaud Droit, Ype Elgersma, Andreas Martin Grabrucker, Francois V Bolduc, Stephane Bezieau, Frédéric Ebstein, Elke Krüger
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies. medRxiv : the preprint server for health sciences (2024)
Gregory Costain, Danielle M Andrade
Third-generation computational approaches for genetic variant interpretation. Brain : a journal of neurology 146 (2) (2023)
Gregory Costain, Danielle M Andrade
Third-generation computational approaches for genetic variant interpretation. Brain : a journal of neurology 146 (2) (2023)
Gregory Costain, Danielle M Andrade
Third-generation computational approaches for genetic variant interpretation. Brain : a journal of neurology (2023)
Bushra Haque, Tayyaba Khan, Inna Ushcatz, Meredith Curtis, Amy Pan, Wendy Wu, Julia Orkin, Gregory Costain
Contemporary aetiologies of medical complexity in children: a cohort study. Archives of disease in childhood 108 (2) (2022)
Ashish Marwaha, Gregory Costain, Cheryl Cytrynbaum, Roberto Mendoza-Londono, Lauren Chad, Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Rosanna Weksberg
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder. American journal of medical genetics. Part A 188 (5) (2022)
Bushra Haque, Tayyaba Khan, Inna Ushcatz, Meredith Curtis, Amy Pan, Wendy Wu, Julia Orkin, Gregory Costain
Contemporary aetiologies of medical complexity in children: a cohort study. Archives of disease in childhood 108 (2) (2022)
Bushra Haque, Tayyaba Khan, Inna Ushcatz, Meredith Curtis, Amy Pan, Wendy Wu, Julia Orkin, Gregory Costain
Contemporary aetiologies of medical complexity in children: a cohort study. Archives of disease in childhood 108 (2) (2022)
Masashi Nishikawa, Marcello Scala, Muhammad Umair, Hidenori Ito, Ahmed Waqas, Pasquale Striano, Federico Zara, Gregory Costain, Valeria Capra, Koh-Ichi Nagata
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder. Journal of medical genetics (2022)
Bushra Haque, Tayyaba Khan, Inna Ushcatz, Meredith Curtis, Amy Pan, Wendy Wu, Julia Orkin, Gregory Costain
Contemporary aetiologies of medical complexity in children: a cohort study. Archives of disease in childhood 108 (2) (2022)
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Meredith K Gillespie, Yoko Ito, Aren E Marshall, Gabrielle Lemire, Lijia Huang, Caitlin Chisholm, Alison J Eaton, E Magda Price, James E Dowling, Arun K Ramani, Roberto Mendoza-Londono, Gregory Costain, Michelle M Axford, Anna Szuto, Vanda McNiven, Nadirah Damseh, Rebekah Jobling, Leanne de Kock, Bahareh A Mojarad, Ted Young, Zhuo Shao, Robin Z Hayeems, Ian D Graham, Mark A Tarnopolsky, Lauren Brady, Christine M Armour, Michael Geraghty, Julie Richer, Sarah Sawyer, Matthew Lines, Saadet Mercimek-Mahmutoglu, Melissa T Carter, Gail Graham, Peter Kannu, Joanna Lazier, Chumei Li, Ritu B Aul, Tugce B Balci, Nomazulu Dlamini, Lauren Badalato, Andrea Guerin, Jagdeep Walia, David Chitayat, Ronald Cohn, Hanna Faghfoury, Cynthia Forster-Gibson, Hernan Gonorazky, Eyal Grunebaum, Michal Inbar-Feigenberg, Natalya Karp, Chantal Morel, Alison Rusnak, Neal Sondheimer, Jodi Warman-Chardon, Priya T Bhola, Danielle K Bourque, Inara Chacon Fonseca, Lauren Chad, Pranesh Chakraborty, Karen Chong, Asif Doja, Elaine Suk-Ying Goh, Maha Saleh, null null, Beth K Potter, Christian R Marshall, David A Dyment, Kristin Kernohan, Kym M Boycott
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Clinical genetics (2022)
Bushra Haque, Tayyaba Khan, Inna Ushcatz, Meredith Curtis, Amy Pan, Wendy Wu, Julia Orkin, Gregory Costain
Contemporary aetiologies of medical complexity in children: a cohort study. Archives of disease in childhood (2022)
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, null null, null null, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Caroline Racine
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain : a journal of neurology 145 (9) (2022)
Susan Walker, Sylvia Lamoureux, Tayyaba Khan, Alyssa C M Joynt, Melissa Bradley, Helen M Branson, Melissa T Carter, Robin Z Hayeems, Lukasz Jagiello, Christian R Marshall, M Stephen Meyn, Steven P Miller, Diane Wilson, Stephen W Scherer, Susan Blaser, Kamiar Mireskandari, Gregory Costain
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. American journal of medical genetics. Part A 185 (10) (2021)
Alyssa C M Joynt, Michelle M Axford, Lauren Chad, Gregory Costain
Understanding genetic variants of uncertain significance. Paediatrics & child health 27 (1) (2021)
Gregory Costain, Ronald D Cohn, David Malkin
Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety. Current treatment options in pediatrics 6 (4) (2020)
Gregory Costain, Ronald D Cohn, David Malkin
Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety. Current treatment options in pediatrics 6 (4) (2020)
Gregory Costain, Ronald D Cohn, David Malkin
Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety. Current treatment options in pediatrics 6 (4) (2020)
Sarah L Voll, Erik Boot, Nancy J Butcher, Samantha Cooper, Tracy Heung, Eva W C Chow, Candice K Silversides, Gregory Costain
Obesity in adults with 22q11.2 deletion syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 19 (2) (2016)
Chelsea Lowther, Marsha Speevak, Christine M Armour, Elaine S Goh, Gail E Graham, Chumei Li, Susan Zeesman, Malgorzata J M Nowaczyk, Lee-Anne Schultz, Antonella Morra, Robert Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H Jung, Victoria Siu, Manjulata Rajguru, Sharan Goobie, Mark A Tarnopolsky, Chitra Prasad, Paul T Dick, Asmaa S Hussain, Margreet Walinga, Renske G Reijenga, Matthew Gazzellone, Anath C Lionel, Christian R Marshall, Stephen W Scherer, Dimitri J Stavropoulos, Elizabeth McCready, Gregory Costain
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in medicine : official journal of the American College of Medical Genetics 19 (1) (2016)
Lily Van, Nancy J Butcher, Gregory Costain, Lucas Ogura, Eva W C Chow
Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 18 (4) (2015)