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Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement Howie, Alison H.; Tingley, Kylie; Inbar-Feigenberg, Michal; Mitchell, John J.; Angel, Kim; Gentle, Jenifer; Smith, Maureen; Offringa, Martin; Butcher, Nancy J.; Campeau, Philippe M.; Chakraborty, Pranesh; Chan, Alicia; Fergusson, Dean; Mamak, Eva; McClelland, Peyton; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Moazin, Zeinab; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Skidmore, Becky; Stockler, Sylvia; Thavorn, Kednapa; Wyatt, Alexandra; Potter, Beth K. Share Save
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
Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada Adams, John; Angel, Kim; Mitchell, John J.; Chakraborty, Pranesh; Potter, Beth K.; Inbar-Feigenberg, Michal; Stockler, Sylvia; Lamoureux, Monica; Howie, Alison; Pace, Alex; Butcher, Nancy J.; Rockman-Greenberg, Cheryl; Hayeems, Robin; Laberge, Anne-Marie; Lacaze-Masmonteil, Thierry; Round, Jeff; Offringa, Martin; Oksoui, Maryam; Schulze, Andreas; Speechley, Kathy; Thavorn, Kednapa; Trakadis, Yannis; Wilson, Kumanan Share Save
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Family-centred care interventions for children with chronic conditions: A scoping review Chow, Andrea J.; Saad, Ammar; Al-Baldawi, Zobaida; Iverson, Ryan; Skidmore, Becky; Jordan, Isabel; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Brehaut, Jamie; Cohen, Eyal; Dyack, Sarah; Gillis, Jane; Goobie, Sharan; Greenberg, Cheryl R.; Hayeems, Robin; Hutton, Brian; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Khangura, Sara; Mackenzie, Jennifer J.; Mitchell, John J.; Moazin, Zeinab; Nicholls, Stuart G.; Pender, Amy; Prasad, Chitra; Schulze, Andreas; Siriwardena, Komudi; Sparkes, Rebecca N.; Speechley, Kathy N.; Stockler, Sylvia; Taljaard, Monica; Teitelbaum, Mari; Trakadis, Yannis; Van Karnebeek, Clara; Walia, Jagdeep S.; Wilson, Kumanan; Potter, Beth K. Share Save
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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
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Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Chakraborty, Pranesh; Geraghty, Michael T.; Irwin, Julie K.; Mitchell, John J.; Stockler, Sylvia; Nicholls, Stuart G.; Offringa, Martin; Rahman, Alvi; Tessier, Laure A.; Butcher, Nancy J.; Iverson, Ryan; Lamoureux, Monica; Clifford, Tammy J.; Hutton, Brian; Paik, Karen; Tao, Jessica; Skidmore, Becky; Coyle, Doug; Duddy, Kathleen; Dyack, Sarah; Greenberg, Cheryl R.; Jain Ghai, Shailly; Karp, Natalya; Korngut, Lawrence; Kronick, Jonathan; MacKenzie, Alex; MacKenzie, Jennifer; Maranda, Bruno; Potter, Murray; Prasad, Chitra; Schulze, Andreas; Sparkes, Rebecca; Taljaard, Monica; Trakadis, Yannis; Walia, Jagdeep; Potter, Beth K. Share Save
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey Chow, Andrea J.; Pugliese, Michael; Tessier, Laure A.; Chakraborty, Pranesh; Iverson, Ryan; Coyle, Doug; Kronick, Jonathan B.; Wilson, Kumanan; Hayeems, Robin; Al-Hertani, Walla; Inbar-Feigenberg, Michal; Jain-Ghai, Shailly; Laberge, Anne-Marie; Little, Julian; Mitchell, John J.; Prasad, Chitra; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N.; Stockler, Sylvia; Trakadis, Yannis; Walia, Jagdeep S.; Wilson, Brenda J.; Potter, Beth K. Share Save
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (vol 144, pg 411, 2020) Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Krageloh-Mann, Ingeborg; Vill, Katharina Share Save
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Kraegeloh-Mann, Ingeborg; Vill, Katharina Share Save
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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Pugliese, Michael; Tingley, Kylie; Chow, Andrea; Pallone, Nicole; Smith, Maureen; Rahman, Alvi; Chakraborty, Pranesh; Geraghty, Michael T.; Irwin, Julie; Tessier, Laure; Nicholls, Stuart G.; Offringa, Martin; Butcher, Nancy J.; Iverson, Ryan; Clifford, Tammy J.; Stockler, Sylvia; Hutton, Brian; Paik, Karen; Tao, Jessica; Skidmore, Becky; Coyle, Doug; Duddy, Kathleen; Dyack, Sarah; Greenberg, Cheryl R.; Ghai, Shailly Jain; Karp, Natalya; Korngut, Lawrence; Kronick, Jonathan; MacKenzie, Alex; MacKenzie, Jennifer; Maranda, Bruno; Mitchell, John J.; Potter, Murray; Prasad, Chitra; Schulze, Andreas; Sparkes, Rebecca; Taljaard, Monica; Trakadis, Yannis; Walia, Jagdeep; Potter, Beth K. Share Save
Atypical cerebral palsy: genomics analysis enables precision medicine Matthews, Allison M.; Blydt-Hansen, Ingrid; Al-Jabri, Basmah; Andersen, John; Tarailo-Graovac, Maja; Price, Magda; Selby, Katherine; Demos, Michelle; Connolly, Mary; Drogemoller, Britt; Shyr, Casper; Mwenifumbo, Jill; Elliott, Alison M.; Lee, Jessica; Ghani, Aisha; Stockler, Sylvia; Salvarinova, Ramona; Vallance, Hilary; Sinclair, Graham; Ross, Colin J.; Wasserman, Wyeth W.; McKinnon, Margaret L.; Horvath, Gabriella A.; Goez, Helly; van Karnebeek, Clara D. Share Save
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada Karaceper, Maria D.; Khangura, Sara D.; Wilson, Kumanan; Coyle, Doug; Brownell, Marni; Davies, Christine; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B.; Grosse, Scott D.; Guttmann, Astrid; Hawken, Steven; Hayeems, Robin Z.; Kronick, Jonathan B.; Laberge, Anne-Marie; Little, Julian; Mhanni, Aizeddin; Mitchell, John J.; Nakhla, Meranda; Potter, Murray; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Stockler, Sylvia; Ueda, Keiko; Vallance, Hilary; Wilson, Brenda J.; Chakraborty, Pranesh; Potter, Beth K. Share Save
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Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices Yuskiv, Nataliya; Potter, Beth K.; Stockler, Sylvia; Ueda, Keiko; Giezen, Alette; Cheng, Barbara; Langley, Erica; Ratko, Suzanne; Austin, Valerie; Chapman, Maggie; Chakraborty, Pranesh; Collet, Jean Paul; Pender, Amy Share Save
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