Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders

por Altassan, Ruqaiah, Fox, Stephanie, Poulin, Chantal, Buhas, Daniela
Publicado 2018

Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

por Peltekova, Iskra, Buhas, Daniela, Stern, Lara, Kirby, Emily, Yusuf, Afiqah, Elsabbagh, Mayada
Publicado 2021

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

por Alsubhi, Sarah, Osterman, Bradley, Chrestian, Nicolas, Dubeau, François, Buhas, Daniela, Srour, Myriam
Publicado 2022

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

por Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
Publicado 2019

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

por 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
Publicado 2023

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic a...

por Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.
Publicado 2023

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

por Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I., Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P., Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A., Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A., McMillan, Hugh J., Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.
Publicado 2021

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

por Duncan, Christopher J.A., Skouboe, Morten K., Howarth, Sophie, Hollensen, Anne K., Chen, Rui, Børresen, Malene L., Thompson, Benjamin J., Stremenova Spegarova, Jarmila, Hatton, Catherine F., Stæger, Frederik F., Andersen, Mette K., Whittaker, John, Paludan, Søren R., Jørgensen, Sofie E., Thomsen, Martin K., Mikkelsen, Jacob G., Heilmann, Carsten, Buhas, Daniela, Øbro, Nina F., Bay, Jakob T., Marquart, Hanne V., de la Morena, M. Teresa, Klejka, Joseph A., Hirschfeld, Matthew, Borgwardt, Line, Forss, Isabel, Masmas, Tania, Poulsen, Anja, Noya, Francisco, Rouleau, Guy, Hansen, Torben, Zhou, Sirui, Albrechtsen, Anders, Alizadehfar, Reza, Allenspach, Eric J., Hambleton, Sophie, Mogensen, Trine H.
Publicado 2022

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 Me...

por 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
Publicado 2020