Anna Přistoupilová

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 261 citations · Full text

Linkage Mapping, Neurogenomics, Genetics +21

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

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy et al. · Nature Communications · 2015 · 93 citations · Full text

Mutations in ANTXR1 Cause GAPO Syndrome

Viktor Stránecký, Alexander Hoischen, Hana Hartmannová et al. · The American Journal of Human Genetics · 2013 · 91 citations · Full text

Genetic Disorder, Medicine, Genetics +4

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Clara Esteban-Jurado, María Vila-Casadesús, Pilar Garré et al. · Genetics in Medicine · 2014 · 90 citations · Full text