Not logged in Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children Birch, Patricia; Beauchesne, Rhea; Bansback, Nick; Boelman, Cyrus; Connolly, Mary; Demos, Michelle; Friedman, Jan M.; Race, Simone; Stockler, Sylvia; Elliott, Alison M.; Adam, Shelin Share Save
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M. Share Save
Utilization and uptake of clinical genetics services in high-income countries: A scoping review Dragojlovic, Nick; Kopac, Nicola; Borle, Kennedy; Tandun, Rachel; Salmasi, Shahrzad; Ellis, Ursula; Birch, Patricia; Adam, Shelin; Friedman, Jan M.; Elliott, Alison M.; Lynd, Larry D. Share Save
Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study Elliott, Alison M.; Dragojlovic, Nick; Campbell, Teresa; Adam, Shelin; Souich, Christele du; Fryer, Michele; Lehman, Anna; Karnebeek, Clara van; Lynd, Larry D.; Friedman, Jan M. Share Save
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review (vol 53, pg 931, 2020) Dragojlovic, Nick; Borle, Kennedy; Kopac, Nicola; Ellis, Ursula; Birch, Patricia; Adam, Shelin; Friedman, Jan M.; Nisselle, Amy; Elliott, Alison M.; Lynd, Larry D. Share Save
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review Dragojlovic, Nick; Borle, Kennedy; Kopac, Nicola; Ellis, Ursula; Birch, Patricia; Adam, Shelin; Friedman, Jan M.; Nisselle, Amy; Elliott, Alison M.; Lynd, Larry D.; Austin, Jehannine; Knoppers, Bartha; Dey, Alivia; Adam, Shelin; Bansback, Nick; Birch, Patricia; Clarke, Lorne; Dragojlovic, Nick; Friedman, Jan; Lambert, Debby; Pullman, Daryl; Virani, Alice; Wasserman, Wyeth; Zawati, Ma'n Share Save
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders Dragojlovic, Nick; van Karnebeek, Clara D. M.; Ghani, Aisha; Genereaux, Dallas; Kim, Ellen; Birch, Patricia; Adam, Shelin; Elliott, Alison M.; Friedman, Jan M.; Lynd, Larry D.; Mwenifumbo, Jill; Nelson, Tanya N. Share Save
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature Nambot, Sophie; Faivre, Laurence; Mirzaa, Ghayda; Thevenon, Julien; Bruel, Ange-Line; Mosca-Boidron, Anne-Laure; Masurel-Paulet, Alice; Goldenberg, Alice; Le Meur, Nathalie; Charollais, Aude; Mignot, Cyril; Petit, Florence; Rossi, Massimiliano; Metreau, Julia; Layet, Valerie; Amram, Daniel; Boute-Benejean, Odile; Bhoj, Elizabeth; Cousin, Margot A.; Kruisselbrink, Teresa M.; Lanpher, Brendan C.; Klee, Eric W.; Fiala, Elise; Grange, Dorothy K.; Meschino, Wendy S.; Hiatt, Susan M.; Cooper, Gregory M.; Olivie, Hilde; Smith, Wendy E.; Dumas, Meghan; Lehman, Anna; Adam, Shelin; du Souich, Christele; Elliott, Alison M.; Mwenifumbo, Jill; Nelson, Tanya N.; van Karnebeek, Clara; Friedman, Jan M.; Inglese, Cara; Nizon, Mathilde; Guerrini, Renzo; Vetro, Annalisa; Kaplan, Eitan S.; Miramar, Dolores; Van Gils, Julien; Fergelot, Patricia; Bodamer, Olaf; Herkert, Johanna C.; Pajusalu, Sander; Ounap, Katrin; Filiano, James J.; Smol, Thomas; Piton, Amelie; Gerard, Benedicte; Chantot-Bastaraud, Sandra; Bienvenu, Thierry; Li, Dong; Juusola, Jane; Devriendt, Koen; Bilan, Frederic; Poe, Charlotte; Chevarin, Martin; Jouan, Thibaud; Tisserant, Emilie; Riviere, Jean-Baptiste; Tran Mau-Them, Frederic; Philippe, Christophe; Duffourd, Yannis; Dobyns, William B.; Hevner, Robert; Thauvin-Robinet, Christel Share Save
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study Dragojlovic, Nick; Elliott, Alison M.; Adam, Shelin; van Karnebeek, Clara; Lehman, Anna; Mwenifumbo, Jill C.; Nelson, Tanya N.; du Souich, Christele; Friedman, Jan M.; Lynd, Larry D. Share Save
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R.; Cytrynbaum, Cheryl; Axford, Michelle M.; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, Malgorzata J. M.; Walker, Susan; Scherer, Stephen W.; Nassif, Christina; Hamdan, Fadi F.; Deal, Cheri L.; Soucy, Jean-Francois; Weksberg, Rosanna; Macleod, Patrick; Michaud, Jacques L.; Chitayat, David Share Save
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An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2 Wilbur, Colin; Buerki, Sarah E.; Guella, Ilaria; Toyota, Eric B.; Evans, Daniel M.; McKenzie, Marna B.; Datta, Anita; Michoulas, Aspasia; Adam, Shelin; Van Allen, Margot I.; Nelson, Tanya N.; Farrer, Matthew J.; Connolly, Mary B.; Demos, Michelle Share Save
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A.; Friedman, Jan M.; Geraghty, Michael T.; Hume, Stacey; Knoppers, Bartha M.; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M. Stephen; Michaud, Jacques L.; Nelson, Tanya N.; Richer, Julie; Sadikovic, Bekim; Skidmore, David L.; Stockley, Tracy; Taylor, Sherry; van Karnebeek, Clara; Zawati, Ma'n H.; Lauzon, Julie; Armour, Christine M. Share Save
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project Beaulieu, Chandree L.; Majewski, Jacek; Schwartzentruber, Jeremy; Samuels, Mark E.; Femandez, Bridget A.; Bernier, Francois P.; Brudno, Michael; Knoppers, Bartha; Marcadier, Janet; Dyment, David; Adam, Shelin; Bulman, Dennis E.; Jones, Steve J. M.; Avard, Denise; Minh Thu Nguyen; Rousseau, Francois; Marshall, Christian; Wintle, Richard F.; Shen, Yaoqing; Scherer, Stephen W.; Friedman, Jan M.; Michaud, Jacques L.; Boycott, Kym M. Share Save
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome Demos, Michelle K.; van Karnebeek, Clara D. M.; Ross, Colin J. D.; Adam, Shelin; Shen, Yaoqing; Zhan, Shing Hei; Shyr, Casper; Horvath, Gabriella; Suri, Mohnish; Fryer, Alan; Jones, Steven J. M.; Friedman, Jan M. Share Save
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