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Author/Creator Meyn, M. Stephen

1. CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Issue 9 (3rd September 2019)

Authors:
Kasak, Laura; Hunter, Jesse M.; Udani, Rupa; Bakolitsa, Constantina; Hu, Zhiqiang; Adhikari, Aashish N.; Babbi, Giulia; Casadio, Rita; Gough, Julian; Guerrero, Rafael F.; Jiang, Yuxiang; Joseph, Thomas; Katsonis, Panagiotis; Kotte, Sujatha; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier Luigi; ...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1373
Record Type:
Journal Article
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2. DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. Issue 1 (27th September 2017)

Authors:
van Engelen, Kalene; Villani, Anita; Wasserman, Jonathan D.; Aronoff, Laura; Greer, Mary‐Louise C.; Tijerin Bueno, Marta; Gallinger, Bailey; Kim, Raymond H.; Grant, Ronald; Meyn, M. Stephen; Malkin, David; Druker, Harriet
Journal:
Pediatric blood & cancer
Issue:
Volume 65:Issue 1(2018)
Page Start:
n/a
Record Type:
Journal Article
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4. 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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5. 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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6. Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset. Issue 4 (1st February 2023)

Authors:
Chung, Jiil; Negm, Logine; Bianchi, Vanessa; Stengs, Lucie; Das, Anirban; Liu, Zhihui Amy; Sudhaman, Sumedha; Aronson, Melyssa; Brunga, Ledia; Edwards, Melissa; Forster, Victoria; Komosa, Martin; Davidson, Scott; Lees, Jodi; Tomboc, Patrick; Samuel, David; Farah, Roula; Bendel, Anne; Knipstein, J...
Journal:
Journal of clinical oncology
Issue:
Volume 41:Issue 4(2023)
Page Start:
766
Record Type:
Journal Article
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8. PhenoTips: Patient Phenotyping Software for Clinical and Research Use. Issue 8 (24th May 2013)

Authors:
Girdea, Marta; Dumitriu, Sergiu; Fiume, Marc; Bowdin, Sarah; Boycott, Kym M.; Chénier, Sébastien; Chitayat, David; Faghfoury, Hanna; Meyn, M. Stephen; Ray, Peter N.; So, Joyce; Stavropoulos, Dimitri J.; Brudno, Michael
Journal:
Human mutation
Issue:
Volume 34:Issue 8(2013:Aug.)
Page Start:
1057
Record Type:
Journal Article
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