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D. Buhas · SciRah

Researcher profile · Semantic Scholar

D. Buhas

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D. Buhas — researcher profile on SciRah

h-index: 18
Works: 44
Citations: 1,166

Most-cited papers

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
T. Harel, W. Yoon, C. Garone, Shen Gu +44 more
2016American Journal of Human Genetics184 citations Open access
Semantic Scholar
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
C. Coughlin, Laura A. Tseng, J. Abdenur, C. Ashmore +33 more
2020Journal of Inherited Metabolic Disease100 citations Open access
Semantic Scholar
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
J. Schwartzentruber, D. Buhas, J. Majewski, F. Sasarman +14 more
2014Human Mutation86 citations
Semantic Scholar
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
R. Carrozzo, D. Verrigni, M. Rasmussen, R. Coo +30 more
2016Journal of Inherited Metabolic Disease81 citations
Semantic Scholar
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic
C. J. Duncan, M. K. Skouboe, Sophie Howarth, A. Hollensen +33 more
2022Journal of Experimental Medicine76 citations Open access
Semantic Scholar
Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
A. Lepelley, E. Della Mina, Erika Van Nieuwenhove, Lise Waumans +26 more
2021Journal of Experimental Medicine72 citations Open access
Semantic Scholar
Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy
T. Edouard, G. Chabot, J. Miró, D. Buhas +4 more
2011European Journal of Pediatrics59 citations
Semantic Scholar
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
C. van Karnebeek, S. Stöckler-Ipsiroglu, Sravan Jaggumantri, B. Assmann +20 more
2014JIMD Reports57 citations Open access
Semantic Scholar
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
M. Carter, M. Srour, P. Au, D. Buhas +9 more
2023Journal of Medical Genetics41 citations Open access
Semantic Scholar
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Ken Saida, R. Maroofian, T. Sengoku, T. Mitani +83 more
2022Genetics in Medicine31 citations Open access
Semantic Scholar
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Pauline E. Schneeberger, F. Kortüm, G. Korenke, M. Alawi +41 more
2020Brain : a journal of neurology30 citations Open access
Semantic Scholar
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A
A. Lepelley, E. Della Mina, Erika Van Nieuwenhove, Lise Waumans +26 more
2021bioRxiv28 citations Open access
Semantic Scholar
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Alina Levtova, Paula J. Waters, D. Buhas, S. Lévesque +7 more
2018Journal of Inherited Metabolic Disease28 citations
Semantic Scholar
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood
M. Srour, Maria Lisa Putorti, J. Schwartzentruber, V. Bolduc +6 more
2014Muscle and Nerve28 citations
Semantic Scholar
A treatable new cause of chorea: Beta‐ketothiolase deficiency
D. Buhas, G. Bernard, T. Fukao, J. Décarie +2 more
2013Movement Disorders28 citations
Semantic Scholar
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Laura A. Tseng, J. Abdenur, A. Andrews, Verena G. Aziz +14 more
2022Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.
T. Kitzler, I. Gupta, B. Osterman, C. Poulin +3 more
2019JIMD Reports20 citations
Semantic Scholar
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
N. Ulrick, A. Goldstein, C. Simons, R. Taft +19 more
2017Pediatric Neurology18 citations Open access
Semantic Scholar
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.
Joseph R. Abraham, J. Barnard, Heng Wang, G. Noritz +3 more
2019Biochemical and Biophysical Research Communications - BBRC17 citations
Semantic Scholar
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort
Alina Levtova, P. Waters, D. Buhas, S. Lévesque +7 more
2018Journal of Inherited Metabolic Disease15 citations Open access
Semantic Scholar
The Québec NTBC Study.
F. Alvarez, S. Atkinson, M. Bouchard, C. Brunel-Guitton +18 more
2017Advances in Experimental Medicine and Biology15 citations
Semantic Scholar
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders
R. Altassan, S. Fox, C. Poulin, D. Buhas
2018Molecular Genetics and Metabolism Reports14 citations Open access
Semantic Scholar
COL4A1/2 CNVs and cerebral small vessel disease
Avi Saskin, G. Sillon, N. Palfreeman, D. Buhas
2018Neurology13 citations
Semantic Scholar
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
Kylie Tingley, Monica Lamoureux, Michael Pugliese, M. Geraghty +51 more
2020Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec
P. Waters, B. Lāce, D. Buhas, Serge Gravel +5 more
2019Molecular Genetics & Genomic Medicine12 citations Open access
Semantic Scholar
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
Ella F. Whittle, Madison Chilian, E. G. Karimiani, Helga Progri +18 more
2022Genetics in Medicine11 citations Open access
Semantic Scholar
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study
E. Dermer, A. Spahr, L. Tran, A. Mirchi +36 more
2020Journal of Child Neurology11 citations
Semantic Scholar
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.
Natascia Anastasio, M. Tarailo-Graovac, R. Al-Khalifah, L. Legault +5 more
2016JIMD Reports10 citations Open access
Semantic Scholar
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, C. Bris +63 more
2025European Journal of Human Genetics8 citations Open access
Semantic Scholar
The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.
Ahmed N. Sahly, M. Srour, D. Buhas, I. Scheffer +1 more
2023European journal of paediatric neurology8 citations
Semantic Scholar
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases
S. Alsubhi, B. Osterman, N. Chrestian, F. Dubeau +2 more
2022Frontiers in Neurology5 citations Open access
Semantic Scholar
Clinical utility of methionine restriction in adenosine kinase deficiency
Najmah Almuhsen, S. Guay, M. Lefrançois, Cheryl Gauvin +7 more
2021JIMD Reports5 citations Open access
Semantic Scholar
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians
Karen Paik, Matthew A. Lines, P. Chakraborty, Sara D. Khangura +25 more
2019Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques5 citations Open access
Semantic Scholar
Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report.
A. Le, M. Yeganeh, D. Buhas, M. Trempe +1 more
2019Seizure5 citations Open access
Semantic Scholar
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED
Tania Cruz Marino, H. Villeneuve, J. Leblanc, Caroline Duranceau +8 more
2021Endocrine4 citations
Semantic Scholar
A novel citrin deficiency mutation in a cholestatic infant.
A. Ricciuto, D. Buhas
2014Journal of Pediatric Gastroenterology and Nutrition - JPGN4 citations
Semantic Scholar
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Ryan Iverson, Monica Taljaard, M. Geraghty, Michael Pugliese +46 more
2024BMC Pediatrics3 citations Open access
Semantic Scholar
Contiguous Gene Deletion of Chromosome Xp in Three FamiliesEncompassing OTC, RPGR and TSPAN7 Genes
Shailly Jain-Ghai, Stephanie J Skinner, Jessica N. Hartley, S. Fox +3 more
20152 citations
Semantic Scholar
MT‐TA pathogenic variants may cause developmental and epileptic encephalopathy without myopathy
Ahmed N. Sahly, D. Buhas, K. Myers
2022American Journal of Medical Genetics. Part A0 citations
Semantic Scholar
P.079 MT-TA: A mitochondrial genome cause of developmental and epileptic encephalopathy
AN Sahly, D. Buhas, K. Myers
2022Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques0 citations Open access
Semantic Scholar
Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series
I. Peltekova, D. Buhas, L. Stern, Emily Kirby +2 more
2021Journal of Personalized Medicine0 citations Open access
Semantic Scholar
THE YIELD OF A UNIFIED SCREEN FOR THE INVESTIGATION OF INBORN ERRORS OF METABOLISM IN CHILDREN WITH NEURODEVELOPMENTAL CONDITIONS – A RETROSPECTIVE CHART REVIEW
Norah Nahhas, I. Peltekova, D. Buhas
20180 citations Open access
Semantic Scholar
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
J. Schwartzentruber, D. Buhas, J. Majewski, F. Sasarman +15 more
20150 citations
Semantic Scholar
Two new unrelated cases of pyrroline-5-carboxylate synthase — New founder effect?
Y. Trakadis, A. Khan, C. Martin, M. Berry +1 more
20140 citations
Semantic Scholar

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