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Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement Lawrence, Sarah E.; Marcadier, Janet; Auger, Sheila; Bariciak, Erika; Chakraborty, Pranesh; Chambers, Amy; Eagle, Susanne; Kowalski, Michael; Marr, Alexa; McIntosh, Nathan; Saleh, David S.; Santander, Emeril; Sinclair, Graham; Wherrett, Diane K.; Henderson, Matthew P. A. Share Save
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Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and review of the first 3 years Kernohan, Kristin D.; Gallagher, Lauren; Pigeon, Marie; Yeh, Ed; Lacaria, Melanie; Axford, Michelle M.; Maccormick, Johnna; Papaioannou, Vicky; Quercia, Nada; Rupar, Charles; Zimmerman, Kim; Weber, Stacey; Cushing, Sharon L.; Chakraborty, Pranesh Share Save
Interim results from a first in human phase 1 clinical trial of in utero enzyme replacement therapy for lysosomal disorders Mackenzie, Tippi C.; Lianoglou, Billie; Canepa, Emma; Herzeg, Akos; Borgas, Beltran; Cohen, Jennifer L.; Bali, Deeksha; Young, Sarah; Gonzalez-Vele, Juan; Munar, Dane; Gelb, Michael H.; Herbs, Zackary (Ari) M.; Chakraborty, Pranesh; Kishnani, Priya; Harmatz, Paul Share Save
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
Implementing evidence-based assertions of clinical actionability in the context of secondary fi ndings: Updates from the ClinGen Actionability Working Group Pak, Christine M.; Gilmore, Marian J.; Bulkley, Joanna E.; Chakraborty, Pranesh; Dagan-Rosenfeld, Orit; Foreman, Ann Katherine M.; Gollob, Michael H.; Jenkins, Charisma L.; Katz, Alexander E.; Lee, Kristy; Meeks, Naomi; O'Daniel, Julianne M.; Posey, Jennifer E.; Rego, Shannon M.; Shah, Neethu; Steiner, Robert D.; Stergachis, Andrew B.; Subramanian, Sai Lakshmi; Trotter, Tracy; Wallace, Kathleen; Williams, Marc S.; Goddard, Katrina A. B.; Buchanan, Adam H.; Manickam, Kandamurugu; Powell, Bradford; Hunter, Jessica Ezzell 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
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
Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry Mitchell, John J.; Inbar-Feigenberg, Michal; Angel, Kim; Chakraborty, Pranesh; Lamoureux, Monica; Adams, John; Potter, Beth K.; Stockler-Ipsirolgu, Sylvia; Howie, Alison H.; Pace, Alex; Butcher, Nancy J.; Greenberg, Cheryl; Hayeems, Robin; Laberge, Anne-Marie; Round, Jeff; Offringa, Martin; Oskoui, Maryam; Ruth, Chelsea; Schulze, Andreas; Speechley, Kathy; Thavorn, Kednapa; Trakadis, Yannis; Wilson, Kumanan; Lacaze, Thierry Share Save
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Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research Vanderhout, Shelley; Potter, Beth K.; Smith, Maureen; Butcher, Nancy J.; Vaters, Jordan; Chakraborty, Pranesh; Adams, John; Inbar-Feigenberg, Michal; Offringa, Martin; Speechley, Kathy; Trakadis, Yannis; Binik, Ariella Share Save
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency Lines, Matthew A.; Cuillerier, Alexanne; Chakraborty, Pranesh; Naas, Turaya; Duque Lasio, M. Laura; Michaud, Jean; Pileggi, Chantal; Harper, Mary-Ellen; Burelle, Yan; Toler, Tomi L.; Sondheimer, Neal; Crawford, Heather P.; Millan, Francisca; Geraghty, Michael T. Share Save
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
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