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Gregory Costain

university of toronto

39H-index
183Paper Count
5.7KCitation Count
Published Papers 96
Publication Date
An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition
err2026-04-18
err0
errOAAI
errVedika Jha; Christina Tsetsos; Mark Bedford; Gregory Costain; Sunita Vohra; Juan Pablo Diaz Martinez; Elise Heon; Jacob Vorstman; Carolina Gorodetsky; Ajoy Vincent; Jesiqua Rapley; Lori Anderson; Evdokia Anagnostou; Danielle A. Baribeau
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Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
err2026-04-02
err0
PREAI
errSaumeh Saeedi; Daena Hirjikaka; Marc Clausen; Stephanie Luca; Emma Reble; Rita Kodida; Daniel Assamad; Lauren Chad; Gregory Costain; Hanna Faghfoury; Josh Silver; Serena Shastri-Estrada; Maureen Smith; Robin Z. Hayeems; Yvonne Bombard
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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
err2026-03-24
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errOAAI
errJamie 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; 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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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
errBrain
IF11.7
err2026-01-01
err1
PREAI
errMurthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
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Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
errBRAIN
IF11.7
err2025-12-01
err0
PREAI
errMaroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; Repetto, Gabriela M.; McKenna, Caoimhe; Shillington, Amelle L.; Phornphutkul, Chanika; Hove, Hanne B.; Mancini, Grazia M. S.; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M.; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Heron, Delphine; van Aalst, Minke M. A.; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L.; Kozenko, Mariya A.; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, Francois; Cassinari, Kevin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A. Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina, I; Bakhtiari, Somayeh; Mester, Jessica L.; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
err2025-11-26
err0
errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. 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 C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John 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 C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
err2025-11-03
err1
PREAI
errGehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A.
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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
err2025-10-11
err0
PREAI
errDavid Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain
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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
err2025-10-10
err0
PREAI
errRobin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott
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Implementing a consultation service for translating genomic research findings into the clinic: Lessons from the SickKids Genome Board
err2025-09-01
err0
PREAI
errPan, Amy Y.; Pulsifer, Kenzie; Axford, Michelle M.; Dolman, Lena; Gallinger, Bailey; Liston, Eriskay; Stephenson, Elizabeth; Szuto, Anna; Zahavich, Laura; Costain, Gregory
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A Microcosting and Cost Consequence Analysis from a Randomized Controlled Trial Comparing Genome Sequencing to Exome Sequencing for Genetic Diagnosis
err2025-08-21
err0
errOAAI
errWendy J. Ungar; Vercancy Wu; Christian R. Marshall; Jackie Hwang; Robin Z. Hayeems; Kate Tsiplova; Meredith K. Gillespie; Anna Szuto; Caitlin Chisholm; Dimitri J. Stavropoulos; Viji Venkataramanan; Bowen Xiao; Gregory Costain; Mélanie Beaulieu Bergeron; Sarah Sawyer; Lynette Lau; Lijia Huang; Roberto Mendoza-Londono; Martin J. Somerville; Kym M. Boycott
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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
err2025-08-13
err0
errOAAI
errAmber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
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Multiple domains of efficacy define the utility of genetic testing
err2025-07-23
err0
PREAI
errCatherine Marx; Amy Y. Pan; Robin Z. Hayeems; Gregory Costain
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Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
err2025-07-01
err0
PREAI
errHuayun 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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Mainstreaming of clinical genetic testing: A conceptual framework
err2025-05-22
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errOAAI
errMichael P. Mackley; Julie Richer; Andrea Guerin; Oana Caluseriu; Linlea Armstrong; Katherine A. Blood; Francois Bernier; Christie Boswell-Patterson; Marisa Chard; Gregory Costain; David Dyment; Alison Eaton; Hanna Faghfoury; Patrick Frosk; Meredith K. Gillespie; Elaine S. Goh; Robin Z. Hayeems; Bita Hashemi; A. Micheil Innes; Molly Jackson; Kym M. Boycott
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Impaired Drug Metabolism Caused by Compound Heterozygous Loss-of-Function Variants in CYP3A4: A Case Report
err2025-04-28
err0
PREAI
errHan Byul Kang; Iris Cohn; Sanjay Mahant; Gregory Costain; Shinya Ito; Ruud H.J. Verstegen
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Insights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosis
err2025-02-05
err0
errOAAI
errAlaa Tayyib; Deepika C. Parameswarappa; Peter J. Kertes; Rajeev Muni; Anupreet Tumber; Gregory Costain; Alex Schramm; Heather MacDonald; Regan Klatt; Ajoy Vincent; Elise Héon
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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
err2025-01-06
err0
errOAAI
errHaque, Bushra; Cheerie, David; Pan, Amy; Curtis, Meredith; Nalpathamkalam, Thomas; Nguyen, Jimmy; Salhab, Celine; Thiruvahindrapuram, Bhooma; Zhang, Jade; Couse, Madeline; Hartley, Taila; Morrow, Michelle M.; Price, E. Magda; Walker, Susan; Malkin, David; Roth, Frederick P.; Costain, Gregory
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