Not logged in Mining the Gap: Deriving Pregnancy Reference Intervals for Hematology Parameters Using Clinical Datasets Barakauskas, Vilte E.; Bohn, Mary Kathryn; Branch, Emma; Boutin, Amelie; Albert, Arianne; Luke, Sabrina; Dittrick, Michelle; Higgins, Victoria; Adeli, Khosrow; Vallance, Hilary; Jung, Benjamin; Dooley, Kent; Dahlgren-Scott, Leanne; Chan, Wee-Shian 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
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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael; Geraghty, Michael T.; Kronick, Jonathan B.; Potter, Beth K.; Coyle, Doug; Wilson, Kumanan; Kowalski, Michael; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Chan, Alicia K. J.; Dyack, Sarah; Feigenbaum, Annette; Giezen, Alette; Goobie, Sharan; Greenberg, Cheryl R.; Ghai, Shailly Jain; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mohan, Connie; Mhanni, Aizeddin; Mitchell, Grant; Mitchell, John J.; Nagy, Laura; Napier, Melanie; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vallance, Hilary; Vandersteen, Anthony; Walia, Jagdeep; Wilson, Ashley; Wilson, Brenda J.; Yu, Andrea C.; Yuskiv, Nataliya; Chakraborty, Pranesh Share Save
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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
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A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations Sharma, Mehul A.; Lee, Ja Young J.; Tam, Andrea; Sattha, Beheroze; Mackenzie, Ian R.; Vallance, Hilary D.; Sirrs, Sandra; Hannah-Shmouni, Fady; Cote, Helene C. F.; Mattman, Andre 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
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function Wen, Xiao-Yan; Tarailo-Graovac, Maja; Brand-Arzamendi, Koroboshka; Willems, Anke; Rakic, Bojana; Huijben, Karin; Da Silva, Afitz; Pan, Xuefang; El-Rass, Suzan; Ng, Robin; Selby, Katheryn; Philip, Anju Mary; Yun, Junghwa; Ye, X. Cynthia; Ross, Colin J.; Lehman, Anna M.; Zijistra, Fokje; Abu Bakar, A.; Drogemoller, Britt; Moreland, Jacqueline; Wasserman, Wyeth W.; Valiance, Hilary; van Scherpenzeel, Monique; Karbassi, Farhad; Hoskings, Martin; Engelke, Udo; de de Brouwer, Arjan; Wevers, Ron A.; Pshezhetsky, Alexey, V; van Karnebeek, Clara D. M.; Lefeber, Dirk J. Share Save
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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families Sass, Joern Oliver; Gemperle-Britschgi, Corinne; Tarailo-Graovac, Maja; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Baric, Ivo; Coker, Mahmut; Damli-Huber, Aynur; Faqeih, Eissa Ali; Segarra, Nuria Garcia; Geraghty, Michael T.; Jatun, Bjorn Magne; Ucar, Sema Kallcan; Kriewitz, Merten; Rauchenzauner, Markus; Bilic, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van Karnebeek, Clara D. M. Share Save
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Exome Sequencing and the Management of Neurometabolic Disorders Tarailo-Graovac, M.; Shyr, C.; Ross, C. J.; Horvath, G. A.; Salvarinova, R.; Ye, X. C.; Zhang, L-H; Bhavsar, A. P.; Lee, J. J. Y.; Droegemoeller, B. I.; Abdelsayed, M.; Alfadhel, M.; Armstrong, L.; Baumgartner, M. R.; Burda, P.; Connolly, M. B.; Cameron, J.; Demos, M.; Dewan, T.; Dionne, J.; Evans, A. M.; Friedman, J. M.; Garber, I.; Lewis, S.; Ling, J.; Mandal, R.; Mattman, A.; McKinnon, M.; Michoulas, A.; Metzger, D.; Ogunbayo, O. A.; Rakic, B.; Rozmus, J.; Ruben, P.; Sayson, B.; Santra, S.; Schultz, K. R.; Selby, K.; Shekel, P.; Sirrs, S.; Skrypnyk, C.; Superti-Furga, A.; Turvey, S. E.; Van Allen, M. I.; Wishart, D.; Wu, J.; Wu, J.; Zafeiriou, D.; Kluijtmans, L.; Wevers, R. A.; Eydoux, P.; Lehman, A. M.; Vallance, H.; Stockler-Ipsiroglu, S.; Sinclair, G.; Wasserman, W. W.; van Karnebeek, C. D. Share Save
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy Zaharieva, Irina T.; Thor, Michael G.; Oates, Emily C.; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T.; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slordahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Lokken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R.; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A.; Morgan, Jennifer E.; Laing, Nigel G.; Vallance, Hilary; Ruben, Peter; Hanna, Michael G.; Lewis, Suzanne; Kamsteeg, Erik-Jan; Maennikkoe, Roope; Muntoni, Francesco Share Save
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement Janer, Alexandre; van Karnebeek, Clara D. M.; Sasarman, Florin; Antonicka, Hana; Al Ghamdi, Malak; Shyr, Casper; Dunbar, Mary; Stockler-Ispiroglu, Sylvia; Ross, Colin J.; Vallance, Hilary; Dionne, Janis; Wasserman, Wyeth W.; Shoubridge, Eric A. Share Save
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking Stockler, Sylvia; Corvera, Silvia; Lambright, David; Fogarty, Kevin; Nosova, Ekaterina; Leonard, Deborah; Steinfeld, Robert; Ackerley, Cameron; Shyr, Casper; Au, Nicolas; Selby, Kathrin; van Allen, Margot; Vallance, Hilary; Wevers, Ron; Watkins, David; Rosenblatt, David; Ross, Colin J.; Conibear, Elizabeth; Wasserman, Wyeth; van Karnebeek, Clara Share Save
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