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Record Type Journal Article Author/Creator Costain, Gregory

2. A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome. Issue 9 (11th July 2020)

Authors:
Curtis, Meredith; Baribeau, Danielle; Walker, Susan; Carter, Melissa; Costain, Gregory; Lamoureux, Sylvia; Liston, Eriskay; Marshall, Christian R.; Reuter, Miriam S.; Snell, Meaghan; Summers, Jane; Vorstman, Jacob; Jobling, Rebekah K.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2145
Record Type:
Journal Article
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4. Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data. Issue 3 (29th November 2022)

Authors:
Hartley, Taila; Soubry, Élisabeth; Acker, Meryl; Osmond, Matthew; Couse, Madeline; Gillespie, Meredith K.; Ito, Yoko; Marshall, Aren E.; Lemire, Gabrielle; Huang, Lijia; Chisholm, Caitlin; Eaton, Alison J.; Price, E. Magda; Dowling, James J.; Ramani, Arun K.; Mendoza‐Londono, Roberto; Costain, Gr...
Journal:
Clinical genetics
Issue:
Volume 103:Issue 3(2023)
Page Start:
288
Record Type:
Journal Article
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6. Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature. (April 2023)

Authors:
Sahly, Ahmed N; Whitney, Robyn; Costain, Gregory; Chau, Vann; Otsubo, Hiroshi; Ochi, Ayako; Donner, Elizabeth J; Cunningham, Jessie; Jones, Kevin C; Widjaja, Elysa; Ibrahim, George M; Jain, Puneet
Journal:
Seizure
Issue:
Volume 107(2023)
Page Start:
13
Record Type:
Journal Article
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7. Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder. Issue 3 (20th May 2022)

Authors:
Nishikawa, Masashi; Scala, Marcello; Umair, Muhammad; Ito, Hidenori; Waqas, Ahmed; Striano, Pasquale; Zara, Federico; Costain, Gregory; Capra, Valeria; Nagata, Koh-ichi
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 3(2023)
Page Start:
223
Record Type:
Journal Article
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8. Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?. Issue 2 (21st October 2021)

Authors:
Lee, Whiwon; Luca, Stephanie; Costain, Gregory; Snell, Meaghan; Marano, Maria; Curtis, Meredith; Dunsmore, Kourtney; Veenma, Danielle; Walker, Susan; Cohn, Ronald D.; Marshall, Christian R.; Cohen, Eyal; Meyn, M. Stephen; Orkin, Julia; Hayeems, Robin Z.
Journal:
Journal of genetic counseling
Issue:
Volume 31:Issue 2(2022)
Page Start:
523
Record Type:
Journal Article
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9. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Issue 10 (22nd June 2021)

Authors:
Walker, Susan; Lamoureux, Sylvia; Khan, Tayyaba; Joynt, Alyssa C. M.; Bradley, Melissa; Branson, Helen M.; Carter, Melissa T.; Hayeems, Robin Z.; Jagiello, Lukasz; Marshall, Christian R.; Meyn, M. Stephen; Miller, Steven P.; Wilson, Diane; Scherer, Stephen W.; Blaser, Susan; Mireskandari, Kamiar;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 10(2021)
Page Start:
3129
Record Type:
Journal Article
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