Not logged in A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions Brands, Marion; Balfoort, Berith; Acharya, Karabi; Bergen, Arthur; Brunetti-Pierri, Nicola; Buijs, Mark; Cellini, Barbara; Schultink, Patrick; Singh, Mandeep; Schulze, Andreas; Timmer, Corrie; Valle, David; Wanders, Ronald; Wartiovaara, Kirmo; van Karnebeek, Clara Share Save
Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada Regier, Dean A.; Loewen, Rosalie; Chan, Brandon; Ehman, Morgan; Pollard, Samantha; Friedman, Jan M.; Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara; Race, Simone; Elliott, Alison M.; Dragojlovic, Nick; Lynd, Larry D.; Weymann, Deirdre 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
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child? Friedman, Jan M.; Bombard, Yvonne; Carleton, Bruce; Issa, Amalia M.; Knoppers, Bartha; Plon, Sharon E.; Rahimzadeh, Vasiliki; V. Relling, Mary; Williams, Marc S.; van Karnebeek, Clara; Vears, Danya; Cornel, Martina C. Share Save
Viral, Bacterial, Metabolic, and Autoimmune Causes of Severe Acute Encephalopathy in Sub-Saharan Africa: A Multicenter Cohort Study Edridge, Arthur; Namazzi, Ruth; Tebulo, Andrew; Mfizi, Anan; Deijs, Martin; Koekkoek, Sylvie; de Wever, Bob; Ende, Arie van der; Umiwana, Jeanine; Jong, Menno D. de; Jans, Judith; Verhoeven-Duif, Nanda; Titulaer, Maarten; van Karnebeek, Clara; Seydel, Karl; Taylor, Terrie; Asiimwe-Kateera, Brenda; Hoek, Lia van der; Kabayiza, Jean-Claude; Mallewa, Macpherson; Idro, Richard; Hensbroek, Michael Boele van; Woensel, Job B. M. van Share Save
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay Mohajeri, Arezoo; Vaseghi-Shanjani, Maryam; Rosenfeld, Jill A.; Yang, Gui Xiang; Lu, Henry; Sharma, Mehul; Lin, Susan; Salman, Areesha; Waqas, Meriam; Azamian, Mahshid Sababi; Worley, Kim C.; Del Bel, Kate L.; Kozak, Frederick K.; Rahmanian, Ronak; Biggs, Catherine M.; Hildebrand, Kyla J.; Lalani, Seema R.; Nicholas, Sarah K.; Scott, Daryl A.; Mostafavi, Sara; van Karnebeek, Clara; Henkelman, Erika; Halparin, Jessica; Yang, Connie L.; Armstrong, Linlea; Turvey, Stuart E.; Lehman, Anna 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 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
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency Al-Shekaili, Hilal H.; Petkau, Terri L.; Pena, Izabella; Lengyell, Tess C.; Verhoeven-Duif, Nanda M.; Ciapaite, Jolita; Bosma, Marjolein; van Faassen, Martijn; Kema, Ido P.; Horvath, Gabriella; Ross, Colin; Simpson, Elizabeth M.; Friedman, Jan M.; van Karnebeek, Clara; Leavitt, Blair R. Share Save
SETD1B-associated neurodevelopmental disorder Roston, Alexandra; Evans, Dan; Gill, Harinder; McKinnon, Margaret; Isidor, Bertrand; Cogne, Benjamin; Mwenifumbo, Jill; van Karnebeek, Clara; An, Jianghong; Jones, Steven J. M.; Farrer, Matthew; Demos, Michelle; Connolly, Mary; Gibson, William T. Share Save
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 Larson, Austin A.; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C.; Marom, Ronit; Graham, Brett H.; Diaz, George A.; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Rutledge, S. Lane; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K. L.; Weisfeld-Adams, James D. Share Save
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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
Management of ophthalmologic manifestations of mitochondrial diseases Response Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H.; Dimmock, David; Enns, Gregory M.; Falk, Marni J.; Feigenbaum, Annette; Frye, Richard E.; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C.; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P.; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W.; Sue, Carolyn M.; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A.; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F. Share Save
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability Maduro, Valerie; Pusey, Barbara N.; Cherukuri, Praveen F.; Atkins, Paul; du Souich, ChristSle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David R.; Bhatt, Samarth S.; Eydoux, Patrice; Links, Amanda E.; Lehman, Anna; Malicdan, May C.; Mason, Christopher E.; Morimoto, Marie; Mullikin, James C.; Sear, Andrew; Van Karnebeek, Clara; Stankiewicz, Pawel; Gahl, William A.; Toro, Camilo; Boerkoel, Cornelius F. 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
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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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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