Thatjana Gardeitchik

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 205 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Function +7

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +3

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 98 citations · Full text

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 97 citations · Full text

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Björn Fischer‐Zirnsak, Aikaterini Dimopoulou, Johannes Egerer et al. · Human Genetics · 2012 · 93 citations

Genetics, Molecular Genetics, Molecular Research +2