Ivana Jedličková

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Nikhita Bolar, Christelle Golzio, Martina Živná et al. · The American Journal of Human Genetics · 2016 · 152 citations · Full text

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová et al. · Human Molecular Genetics · 2016 · 76 citations · Full text

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter et al. · Neurology · 2016 · 41 citations · Full text

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to mutations identifies distinct clinical subtypes

Martina Živná, Kendrah Kidd, Mohamad Zaidan et al. · Kidney International · 2020 · 39 citations · Full text

Glomerular Disease, Glomerulonephritis, Urology +11

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Ivana Jedličková, Maxime Cadieux‐Dion, Anna Přistoupilová et al. · European Journal of Human Genetics · 2020 · 16 citations · Full text

Neuro-oncology, Genetic Disorder, Whole-exome Sequencing +5