Dariusz Rokicki

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara et al. · Journal of Translational Medicine · 2016 · 226 citations · Full text

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Laura S. Kremer, Katharina Danhauser, Diran Herebıan et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases

Ewa Pronicka, Elżbieta Ciara, Paulina Halat et al. · Journal of Applied Genetics · 2017 · 92 citations · Full text

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp, Elisa Mastantuono, Charlotte L. Alston et al. · Orphanet Journal of Rare Diseases · 2018 · 79 citations · Full text

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Charlotte L. Alston, Alison G. Compton, Luke E. Formosa et al. · The American Journal of Human Genetics · 2016 · 69 citations · Full text