학술논문
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'학술논문'
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1~20
Academic Journal
Hayeems, Robin Z. ; Ungar, Wendy J. ; Marshall, Christian R. ; Gillespie, Meredith K. ; Szuto, Anna ; Huang, Lijia ; Venkataramanan, Viji ; Xiao, Bowen ; Chisholm, Caitlin ; Stavropoulos, D. James ; Bergeron, Mélanie Beaulieu ; Lee, Whiwon ; Costain, Gregory ; Jobling, Rebekah ; Sawyer, Sarah ; Price, E. Magda ; Lau, Lynette ; Mendoza, Roberto ; Somerville, Martin J. ; Boycott, Kym M.
In Genetics in Medicine January 2026 28(1)
Academic Journal
Lee, Whiwon ; Yan, Joyce ; Fooks, Katharine ; Barwick, Melanie ; Dobrow, Mark ; Friedman, Jan M. ; Marshall, Christian R. ; Hayeems, Robin Z.
In Genetics in Medicine March 2026 28(3)
Academic Journal
Christian R Marshall; Sonya Elango; Salma Shickh; Raymond H Kim; Kym M Boycott; Wendy J Ungar; Jasmin Bhawra; Viji Venkataramanan; Robin Z Hayeems; Gregory Costain; Caitlin Chisholm; Taila Hartley; Roberto Mendoza-Londono; Martin Somerville; Oana Caluseriu; Stacy Hewson; Kaitlin J Stanley; Meredith K Gillespie; Natalie del Signore; Gordon McSheffrey; Sarah L Sawyer; Alexandre White-Brown; Stephanie Telesca
BMJ Open, Vol 15, Iss 8 (2025)
Academic Journal
D'Gama, Alissa M, PhD; Mulhern, Sarah, MGenCouns; Sheidley, Beth R, MS; Boodhoo, Fadil, MD; Buts, Sarah, MD; Chandler, Natalie J, PhD; Cobb, Joanna, PhD; Curtis, Meredith, MHSc; Higginbotham, Edward J, MSc; Holland, Jonathon, MB BChir; Khan, Tayyaba, MPH; Koh, Julia, BS; Liang, Nicole S Y, MSc; McRae, Lyndsey, MN; Nesbitt, Sarah E, PhD; Oby, Brandon T, BS; Paternoster, Ben, BSc; Patton, Alistair, MBBCh; Rose, Graham, PhD; Scotchman, Elizabeth, PhD; Valentine, Rozalia, MS; Wiltrout, Kimberly N, MD; Hayeems, Robin Z, PhD; Jain, Puneet, DM; Lunke, Sebastian, PhD; Marshall, Christian R, PhD; Rockowitz, Shira, PhD; Sebire, Neil J, Prof; Stark, Zornitza, Prof; White, Susan M, Prof; Chitty, Lyn S, Prof; Cross, J Helen, Prof; Scheffer, Ingrid E, Prof; Chau, Vann, MD; Costain, Gregory, PhD; Poduri, Annapurna, Prof; Howell, Katherine B, PhD; McTague, Amy, PhD
The Lancet Neurology. 22(9):812-825
Academic Journal
Ungar, Wendy J., MSc, PhD; Hayeems, Robin Z., ScM, PhD; Marshall, Christian R., PhD; Gillespie, Meredith K., HBSc, MSc; Szuto, Anna, HBSc, MSc; Chisholm, Caitlin, HBSc, MS; James Stavropoulos, D., MSc, PhD; Huang, Lijia, PhD; Jarinova, Olga, PhD; Wu, Vercancy, MA; Tsiplova, Kate, MSc; Lau, Lynnette, MSc; Lee, Whiwon, HBSc, MS; Venkataramanan, Viji, MA; Sawyer, Sarah, MD, PhD; Mendoza-Londono, Roberto, MD, MSc; Somerville, Martin J., MSc, PhD; Boycott, Kym M., MD, PhD
Clinical Therapeutics. 45(8):702-709
Academic Journal
Aucoin, Susan; Bourque, Liz Sinclair; Braid, Tamara; Bronicki, Lucas; Curtis, Meredith; Elango, Sonny; Hartley, Taila; (Ted) Higginbotham, Edward J.; Hitchcock, Emma; Jobling, Rebekah; Keating, Jennifer; Khan, Reem; Lee, Whiwon; Mackley, Michael; Matviychuk, Diana; Moran, Olivia; McGowan-Jordan, Jean; Pan, Anna; Poirier, Myriam; Price, E. Magda; Pulsifer, Kenzie; Simko, Sean; Schaffer, Audrey; Smith, Brian; Sriretnakumar, Venuja; Sung, Wilson; Zaidi, Syed Hassan; Ungar, Wendy J. ; Wu, Vercancy ; Marshall, Christian R. ; Hwang, Jackie ; Hayeems, Robin Z. ; Tsiplova, Kate ; Gillespie, Meredith K. ; Szuto, Anna ; Chisholm, Caitlin ; Stavropoulos, Dimitri J. ; Venkataramanan, Viji ; Xiao, Bowen ; Costain, Gregory ; Bergeron, Mélanie Beaulieu ; Sawyer, Sarah ; Lau, Lynette ; Huang, Lijia ; Mendoza-Londono, Roberto ; Somerville, Martin J. ; Boycott, Kym M.
In Genetics in Medicine June 2025
Academic Journal
Liston, Eriskay J., MSc, CGC; Kalbfleisch, Kelsey J., MSc, CGC, CCGC; Stanley, Kaitlin J., BSc; Chaturvedi, Rajiv R., MB BChir, MD, PhD; Cohn, Iris, MSc (Pharm), RPh; Farncombe, Kirsten M., PhD; Hayeems, Robin Z., ScM, PhD; Schwartz, Marci L.B., MSc, CGC; Somerville, Cherith B., MHSc; Kim, Raymond H., MD, PhD, FRCPC, FCCMG, FACMG; Jobling, Rebekah K., MD, FRCPC
Canadian Journal of Cardiology. 38(9):1454-1457
Academic Journal
Bombard, Yvonne; Hayeems, Robin Z.; Aronson, Melyssa; Bernier, Francois; Brudno, Michael; Carroll, June C.; Chad, Lauren; Clausen, Marc; Cohn, Ronald; Costain, Gregory; Dhalla, Irfan; Faghfoury, Hanna; Friedman, Jan; Hewson, Stacy; Jamieson, Trevor; Jobling, Rebekah; Kodida, Rita; Laberge, Anne-Marie; Lerner-Ellis, Jordan; Liston, Eriskay; Luca, Stephanie; Mamdani, Muhammad; Marshall, Christian R.; Osmond, Matthew; Pham, Quynh; Reble, Emma; Rudzicz, Frank; Seto, Emily; Shastri-Estrada, Serena; Shuman, Cheryl; Silver, Josh; Smith, Maureen; Thorpe, Kevin; Ungar, Wendy J.; Lee, Whiwon ; Hirjikaka, Daena ; Grewal, Sonya ; Shaw, Angela
In Genetics in Medicine June 2024 26(6)
Academic Journal
Hayeems, Robin Z., ScM PhD; Venkataramanan, Viji, MA; Tsiplova, Kate, MSc; Ungar, Wendy J., MSc PhD; Marshall, Christian R., PhD; Stavropoulos, Dimitri J., MSc PhD; Somerville, Martin J., MSc PhD; Gillespie, Meredith K., HBSc MSc; Price, E. Magda, PhD; Szuto, Anna, HBSc MSc; Khan, Reem, MA; Mendoza-Londono, Roberto, MD MSc; Chisholm, Caitlin, HBSc MS; Sawyer, Sarah, MD PhD; Huang, Lijia, PhD; Jarinova, Olga, PhD; Lau, Lynette, MSc; Lee, Whiwon, HBSc MS; Boycott, Kym M., MD PhD
CMAJ Open. 10(2):E460-E465
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Hartley, Taila ; Acker, Meryl ; Fooks, Katharine ; Gillespie, Meredith K. ; Price, E. Magda ; Graham, Ian D. ; White-Brown, Alexandre ; MacKay, Layla ; Macdonald, Stella K. ; Brady, Lauren ; Hui, Angela Y. ; Andrews, Joseph D. ; Chowdhury, Ashfia ; Wall, Erika ; Soubry, Élisabeth ; Ediae, Grace U. ; Rojas, Samantha ; Assamad, Daniel ; Tarnopolsky, Mark ; Sawyer, Sarah L. ; Chisholm, Caitlin ; Lemire, Gabrielle ; Amburgey, Kimberly ; Lazier, Joanna ; Mendoza-Londono, Roberto ; Dowling, James J. ; Balci, Tugce B. ; Armour, Christine M. ; Bhola, Priya T. ; Costain, Gregory ; Dupuis, Lucie ; Carter, Melissa ; Badalato, Lauren ; Richer, Julie ; Boswell-Patterson, Christie ; Kannu, Peter ; Cordeiro, Dawn ; Warman-Chardon, Jodi ; Graham, Gail ; Siu, Victoria Mok ; Cytrynbaum, Cheryl ; Rusnak, Alison ; Aul, Ritu B. ; Yoon, Grace ; Gonorazky, Hernan ; McNiven, Vanda ; Mercimek-Andrews, Saadet ; Guerin, Andrea ; Deshwar, Ashish R. ; Marwaha, Ashish ; Weksberg, Rosanna ; Karp, Natalya ; Campbell, Maggie ; Al-Qattan, Sarah ; Shuen, Andrew Y. ; Inbar-Feigenberg, Michal ; Cohn, Ronald ; Szuto, Anna ; Inglese, Cara ; Poirier, Myriam ; Chad, Lauren ; Potter, Beth ; Boycott, Kym M.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Hayeems, Robin Z. ; Luca, Stephanie ; Xiao, Bowen ; Boswell-Patterson, Christie ; Venegas, Carolina Lavin ; Abi Semaan, Clarissa R. ; Kolar, Tessa ; Myles-Reid, Diane ; Chad, Lauren ; Dyment, David ; Boycott, Kym M. ; Lazier, Joanna ; Ungar, Wendy J. ; Armour, Christine M.
In Genetics in Medicine October 2024
Academic Journal
Andrea J. Chow; Ammar Saad; Zobaida Al‐Baldawi; Ryan Iverson; Becky Skidmore; Isabel Jordan; Nicole Pallone; Maureen Smith; Pranesh Chakraborty; Jamie Brehaut; Eyal Cohen; Sarah Dyack; Jane Gillis; Sharan Goobie; Cheryl R. Greenberg; Robin Hayeems; Brian Hutton; Michal Inbar‐Feigenberg; Shailly Jain‐Ghai; Sara Khangura; Jennifer J. MacKenzie; John J. Mitchell; Zeinab Moazin; Stuart G. Nicholls; Amy Pender; Chitra Prasad; Andreas Schulze; Komudi Siriwardena; Rebecca N. Sparkes; Kathy N. Speechley; Sylvia Stockler; Monica Taljaard; Mari Teitelbaum; Yannis Trakadis; Clara Van Karnebeek; Jagdeep S. Walia; Kumanan Wilson; Beth K. Potter
Health Expectations, Vol 27, Iss 1, Pp n/a-n/a (2024)
Academic Journal
Degeling, K.; Hayeems, R.Z.; Tagimacruz, T.; MacDonald, K.V.; Seeger, T.A.; Hartley, T.; Boycott, K.M.; Bernier, F.P.; Mendoza-Londono, R.; Marshall, D.
Value in Health. 26(6):S90-S90
Academic Journal
Jegathisawaran, Jathishinie ; Tsiplova, Kate ; Hayeems, Robin Z. ; Marshall, Christian R. ; Stavropoulos, Dimitri J. ; Pereira, Sergio L. ; Thiruvahindrapuram, Bhooma ; Liston, Eriskay ; Reuter, Miriam S. ; Manshaei, Roozbeh ; Cohn, Iris ; Jobling, Rebekah ; Kim, Raymond H. ; Mital, Seema ; Ungar, Wendy J.
In Genetics in Medicine May 2022 24(5):1027-1036
Academic Journal
Szego, M.J.; Meyn, M.S.; Shuman, C.; Zlotnik Shaul, R.; Anderson, J.A.; Bowdin, S.; Monfared, N.; Hayeems, R.Z.
European Journal of Medical Genetics. 62(5):350-356
Academic Journal
Reuter, Miriam S. ; Chaturvedi, Rajiv R. ; Liston, Eriskay ; Manshaei, Roozbeh ; Aul, Ritu B. ; Bowdin, Sarah ; Cohn, Iris ; Curtis, Meredith ; Dhir, Priya ; Hayeems, Robin Z. ; Hosseini, S. Mohsen ; Khan, Reem ; Ly, Linh G. ; Marshall, Christian R. ; Mertens, Luc ; Okello, John B.A. ; Pereira, Sergio L. ; Raajkumar, Akshaya ; Seed, Mike ; Thiruvahindrapuram, Bhooma ; Scherer, Stephen W. ; Kim, Raymond H. ; Jobling, Rebekah K.
In Genetics in Medicine June 2020 22(6):1015-1024
Academic Journal
Degeling, K; Grazziotin Lago, L; Hayeems, RZ; Boycott, KM; Bernier, FP; Mendoza-Londono, R; Seeger, TA; Marshall, D
Value in Health. 25(7):S344-S344
Academic Journal
Stephenson S. E. M.; Costain G.; Blok L. E. R.; Silk M. A.; Nguyen T. B.; Dong X.; Alhuzaimi D. E.; Dowling J. J.; Walker S.; Amburgey K.; Hayeems R. Z.; Rodan L. H.; Schwartz M. A.; Picker J.; Lynch S. A.; Gupta A.; Rasmussen K. J.; Schimmenti L. A.; Klee E. W.; Niu Z.; Agre K. E.; Chilton I.; Chung W. K.; Revah-Politi A.; Au P. Y. B.; Griffith C.; Racobaldo M.; Raas-Rothschild A.; Ben Zeev B.; Barel O.; Moutton S.; Morice-Picard F.; Carmignac V.; Cornaton J.; Marle N.; Devinsky O.; Stimach C.; Wechsler S. B.; Hainline B. E.; Sapp K.; Willems M.; Bruel A. -L.; Dias K. -R.; Evans C. -A.; Roscioli T.; Sachdev R.; Temple S. E. L.; Zhu Y.; Baker J. J.; Scheffer I. E.; Gardiner F. J.; Schneider A. L.; Muir A. M.; Mefford H. C.; Crunk A.; Heise E. M.; Millan F.; Monaghan K. G.; Person R.; Rhodes L.; Richards S.; Wentzensen I. M.; Cogne B.; Isidor B.; Nizon M.; Vincent M.; Besnard T.; Piton A.; Marcelis C.; Kato K.; Koyama N.; Ogi T.; Goh E. S. -Y.; Richmond C.; Amor D. J.; Boyce J. O.; Morgan A. T.; Hildebrand M. S.; Kaspi A.; Bahlo M.; Fridriksdottir R.; Katrinardottir H.; Sulem P.; Stefansson K.; Bjornsson H. T.; Mandelstam S.; Morleo M.; Mariani M.; Scala M.; Accogli A.; Torella A.; Capra V.; Wallis M.; Jansen S.; Weisfisz Q.; de Haan H.; Sadedin S.; Lim S. C.; White S. M.; Ascher D. B.; Schenck A.; Lockhart P. J.; Christodoulou J.; Tan T. Y.
TUDP Study Group & Broad Center for Mendelian Genomics 2022, 'Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome', American journal of human genetics, vol. 109, no. 4, pp. 601-617. https://doi.org/10.1016/j.ajhg.2022.03.002
American Journal of Human Genetics, 109, 4, pp. 601-617
American Journal of Human Genetics, 109, 4, pp. 601-617
Academic Journal
Monica Taljaard; Sarah Dyack; Jeremy M Grimshaw; Andreas Schulze; Ian D Graham; Jamie Brehaut; Kumanan Wilson; Pranesh Chakraborty; Nathalie Major; Eyal Cohen; Yannis Trakadis; Clara van Karnebeek; Maureen Smith; Kathy Speechley; Komudi Siriwardena; Robin Z Hayeems; Sharan Goobie; Beth K Potter; Jagdeep S Walia; Jennifer J MacKenzie; Chitra Prasad; Stuart G Nicholls; Ann Jolly; Brenda J Wilson; Lisa A Prosser; Andrea J Chow; Ryan Iverson; Monica Lamoureux; Kylie Tingley; Isabel Jordan; Nicole Pallone; Zobaida Al-Baldawi; Alicia Chan; Lisa Jane Gillis; Cheryl R Greenberg; Shailly Jain-Ghai; Sara Khangura; John J Mitchell; Amy Pender; Murray Potter; Rebecca Sparkes; Sylvia Stockler; Mari Teitelbaum
BMJ Open, Vol 12, Iss 2 (2022)
Academic Journal
Anderson, J A; Meyn, M S; Shuman, C; Shaul, R Zlotnik; Mantella, L E; Szego, M J; Bowdin, S; Monfared, N; Hayeems, R Z
Journal of Medical Ethics, 2017 Aug 01. 43(8), 535-539.
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