Daniela Buhas

Long-term safety and efficacy of deoxycytidine/deoxythymidine in treatment of POLG-related disorders

Anthony C T Cheung, Saoussen Berrahmoune, Christelle Dassi, Heather Pekeles, Tommy Gagnon, Paula J. Waters, Ralf Eberhard, Daniela Buhas, Kenneth Alexis Myers

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Sentell ZT, Cheung ACT, Russo F, Bernard C, Suri R, Cybulsky AV, Buhas D, Kitzler TM

Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder

Quentin Sabbagh, Felipe Villa Tobón, Zahra Kazemi, Laura Lentini, Marie-Emmanuelle Dilenge, Daniela Buhaş, Tomi Pastinen, Isabelle Thiffault, Geneviève Bernard

Short telomeres in mitochondrial DNA depletion disorders.

Dille Y, Rampakakis E, Aubert G, Dassi C, Mannherz W, Berrahmoune S, Srour M, Buhas D, Agarwal S, Myers KA

Author response to Commentary on "Long-term safety and efficacy of deoxycytidine/deoxythymidine in treatment of POLG-related disorders".

Myers KA, Buhas D, Waters PJ

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E

Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial

Saoussen Berrahmoune, Christelle Dassi, Heather Pekeles, Anthony C T Cheung, Tommy Gagnon, Paula J. Waters, Daniela Buhaş, Kenneth Alexis Myers

Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial

Heather Pekeles, Saoussen Berrahmoune, Christelle Dassi, Anthony C T Cheung, Tommy Gagnon, Paula J. Waters, Ralf Eberhard, Daniela Buhaş, Kenneth Alexis Myers

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C

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