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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle Share Save
Safety and efficacy fi cacy of deoxycytidine/deoxythymidine combination therapy in POLL-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial Pekeles, Heather; Berrahmoune, Saoussen; Dassi, Christelle; Cheung, Anthony C. T.; Gagnon, Tommy; Waters, Paula J.; Eberhard, Ralf; Buhas, Daniela; Myers, Kenneth A. Share Save
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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
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities 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; Carrol, Christopher J. Share Save
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals Saida, Ken; Marootain, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T.; Marafi, Dana; Zaki, Maha S.; O'Brian, Thomas J.; Karimiani, Ehsan Ghayoor; Kaiyrzhanov, Rauan; Takizawa, Marina; Ohori, Sachiko; Leong, Huey Yin; Akay, Gulsen; Galehdari, Hamid; Zamani, Mina; Romy, Ratna; Carroll, Christopher J.; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Malek, Hadis; Ahangari, Najmeh; Tomoum, Hoda; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Murphy, David; Dominik, Natalia; Elbendary, Hasnaa M.; Rafat, Karima; Yilmaz, Sanem; Kanmaz, Seda; Serin, Mine; Krishnakumar, Deepa; Gardham, Alice; Maw, Anna; Rao, Tekki Sreenivasa; Alsubhi, Sarah; Srour, Myriam; Buhas, Daniela; Jewett, Tamison; Goldberg, Rachel E.; Shamseldin, Hanan; Frengen, Eirik; Misceo, Doriana; Stromme, Petter; Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Yesil, Gozde; Sengenc, Esma; Guler, Serhat; Hull, Mariam; Parnes, Mered; Aktas, Dilek; Anlar, Banu; Bayram, Yavuz; Pehlivan, Davut; Posey, Jennifer E.; Alayi, Shahryar; Manshadi, Seyed Ali Madani; Alzaidan, Hamad; Al-Owain, Mohammad; Alabdi, Lama; Abdulwahab, Ferdous; Sekiguchi, Futoshi; Hamanaka, Kohei; Fujita, Atsushi; Uchiyama, Yuri; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Elshafie, Reem M.; Salayev, Kamran; Guliyeva, Ulviyya; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Monaghan, Kristin G.; Langley, Katherine G.; Yang, Hui; Motavaf, Mahsa; Safari, Saeid; Alipour, Mozhgan; Ogata, Kazuhiro; Brown, Andre E. X.; Lupski, James R.; Houlden, Henry; Matsumoto, Naomichi Share Save
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic Duncan, Christopher J. A.; Skouboe, Morten K.; Howarth, Sophie; Hollensen, Anne K.; Chen, Rui; Borresen, Malene L.; Thompson, Benjamin J.; Spegarova, Jarmila Stremenova; Hatton, Catherine F.; Staeger, Frederik F.; Andersen, Mette K.; Whittaker, John; Paludan, Soren R.; Jorgensen, Sofie E.; Thomsen, Martin K.; Mikkelsen, Jacob G.; Heilmann, Carsten; Buhas, Daniela; Obro, 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. Share Save
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M. Share Save
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED Marino, Tania Cruz; Villeneuve, Helene; Leblanc, Josianne; Duranceau, Caroline; Caron, Philippe; Morin, Charles; Milot, Marcel; Chretien, Raphaelle; Gagnon, Maude-Marie; Mathieu, Jean; Ellezam, Benjamin; Buhas, Daniela Share Save
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A Lepelley, Alice; Della Mina, Erika; Van Nieuwenhove, Erika; Waumans, Lise; Fraitag, Sylvie; Rice, Gillian I.; Dhir, Ashish; Fremond, 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, Stephanie; Wai, Timothy; Wouters, Carine; Bader-Meunier, Brigitte; Crow, Yanick J. Share Save
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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder Schneeberger, Pauline E.; Kortum, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin Share Save
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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RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection Ulrick, Nicole; Goldstein, Amy; Simons, Cas; Taft, Ryan J.; Heiman, Guy; Pizzino, Amy; Bloom, Miriam; Vogt, Julie; Pysden, Karen; Diodato, Dania; Martinelli, Diego; Monavari, Ahmad; Buhas, Daniela; van Karnebeek, Clara D. M.; Dorboz, Imen; Boespflug-Tanguy, Odile; Rodriguez, Diana; Tetreault, Martine; Majewski, Jacek; Bernard, Genevieve; Ng, Yi Shiau; McFarland, Robert; Vanderver, Adeline Share Save
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; McLaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R. Share Save
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome (vol 35, pg 1285, 2014) Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon-Cavanagh, Simon; Thiffault, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Michaud, Jacques; Boles, Richard G.; Deal, Cheri L.; Desilets, Valerie; Shoubridge, Eric A.; Samuels, Mark E. Share Save
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon-Cavanagh, Simon; Thiffaut, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Michaud, Jacques; Boles, Richard G.; Deal, Cheri L.; Desilets, Valerie; Shoubridge, Eric A.; Samuels, Mark E. Share Save
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