Not logged in Canadian College of Medical Geneticists: clinical practice advisory document - responsibility to recontact for reinterpretation of clinical genetic testing Goh, Elaine Suk-Ying; Chad, Lauren; Richer, Julie; Bombard, Yvonne; Mighton, Chloe; Agatep, Ron; Lacaria, Melanie; Penny, Blaine; Thomas, Mary Ann; Zawati, Ma'n H.; Macfarlane, Julie; Laberge, Anne-Marie; Nelson, Tanya N. Share Save
Next generation of free? Points to consider when navigating sponsored genetic testing Bartels, Kirsten; Afonso, Samantha; Brown, Lindsay; Carriles, Claudia; Kim, Raymond; Lazier, Joanna; Mercimek-Andrews, Saadet; Nelson, Tanya N.; Stedman, Ian; Thain, Emily; Vanneste, Rachel; Chad, Lauren Share Save
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG) Carter, Melissa T.; Srour, Myriam; Au, Ping-Yee Billie; Buhas, Daniela; Dyack, Sarah; Eaton, Alison; Inbar-Feigenberg, Michal; Howley, Heather; Kawamura, Anne; Lewis, Suzanne M. E.; McCready, Elizabeth; Nelson, Tanya N.; Vallance, Hilary 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
Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists Lazier, Joanna; Hartley, Taila; Brock, Jo-Ann; Caluseriu, Oana; Chitayat, David; Laberge, Anne-Marie; Langlois, Sylvie; Lauzon, Julie; Nelson, Tanya N.; Parboosingh, Jillian; Stavropoulos, Dimitri J.; Boycott, Kym; Armour, Christine M. Share Save
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A.; Jongmans, Marjolijn C. J.; Pfundt, Rolph; Prasad, Chitra; Berard, Roberta A.; Fannemel, Madeleine; Frengen, Eirik; Misceo, Doriana; Ramsey, Keri; Yang, Yaping; Schaaf, Christian P.; Wang, Xia Share Save
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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
CCMG practice guideline: laboratory guidelines for next-generation sequencing Hume, Stacey; Nelson, Tanya N.; Speevak, Marsha; McCready, Elizabeth; Agatep, Ron; Feilotter, Harriet; Parboosingh, Jillian; Stavropoulos, Dimitri J.; Taylor, Sherryl; Stockley, Tracy L. Share Save
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results Bombard, Yvonne; Brothers, Kyle B.; Fitzgerald-Butt, Sara; Garrison, Nanibaa' A.; Jamal, Leila; James, Cynthia A.; Jarvik, Gail P.; McCormick, Jennifer B.; Nelson, Tanya N.; Ormond, Kelly E.; Rehm, Heidi L.; Richer, Julie; Souzeau, Emmanuelle; Vassy, Jason L.; Wagner, Jennifer K.; Levy, Howard P. 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
Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada Armour, Christine M.; Dougan, Shelley Danielle; Brock, Jo-Ann; Chari, Radha; Chodirker, Bernie N.; DeBie, Isabelle; Evans, Jane A.; Gibson, William T.; Kolomietz, Elena; Nelson, Tanya N.; Tihy, Frederique; Thomas, Mary Ann; Stavropoulos, Dimitri J. Share Save
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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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome Sleven, Hannah; Welsh, Seth J.; Yu, Jing; Churchill, Mair E. A.; Wright, Caroline F.; Henderson, Alex; Horvath, Rita; Rankin, Julia; Vogt, Julie; Magee, Alex; McConnell, Vivienne; Green, Andrew; King, Mary D.; Cox, Helen; Armstrong, Linlea; Lehman, Anna; Nelson, Tanya N.; Williams, Jonathan; Clouston, Penny; Hagman, James; Nemeth, Andrea H. 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
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Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy Mercimek-Mahmutoglu, Saadet; Horvath, Gabriella A.; Coulter-Mackie, Marion; Nelson, Tanya; Waters, Paula J.; Sargent, Michael; Struys, Eduard; Jakobs, Cornelis; Stockler-Ipsiroglu, Sylvia; Connolly, Mary B. Share Save
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