Katya Mokretar

Evaluation of the detection of <i>GBA</i> missense mutations and other variants using the Oxford Nanopore MinION

Melissa Leija‐Salazar, Fritz J. Sedlazeck, Marco Toffoli et al. · Molecular Genetics & Genomic Medicine · 2019 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Somatic copy number gains of α-synuclein (SNCA) in Parkinson’s disease and multiple system atrophy brains

Katya Mokretar, Daniel Pease, Jan‐Willem Taanman et al. · Brain · 2018 · 77 citations · Full text

Life Sciences, Genetics, Neuroscience +17

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation

Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez et al. · PLoS ONE · 2017 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Association of Polymorphisms in Endothelial Nitric Oxide Synthesis and Renin-Angiotensin-Aldosterone System with Developing of Coronary Artery Disease in Bulgarian Patients

Katya Mokretar, Hristo Velinov, Arman Postadzhiyan et al. · Genetic Testing and Molecular Biomarkers · 2015 · 24 citations

Medicine, Cardiology, Genetics +17

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +14