Daniela Buhaş

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

C.J. Duncan, Morten Kelder Skouboe, Sophie Howarth et al. · The Journal of Experimental Medicine · 2022 · 92 citations · Full text

Life Sciences, Genetics, Infectious Diseases +17

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

Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove et al. · The Journal of Experimental Medicine · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 88 citations

Life Sciences, Genetics, Molecular Genetics +11

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase<i>IARS2</i>in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Jeremy Schwartzentruber, Daniela Buhaş, Jacek Majewski et al. · Human Mutation · 2014 · 78 citations

Life Sciences, Genetics, Molecular Genetics +17