Nicola Glöckle

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Nicola Glöckle, Susanne Kohl, Julia Mohr et al. · European Journal of Human Genetics · 2013 · 244 citations · Full text

Ocular Disease, Panel-based Next Generation, Mendelian Disorder +9

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, Tim M. Strom et al. · PLoS ONE · 2016 · 103 citations · Full text

Engineering, Genetics, Mutation Detection +19

Generation of a novel rodent model for DYT1 dystonia

Kathrin Grundmann, Nicola Glöckle, Giuseppina Martella et al. · Neurobiology of Disease · 2012 · 77 citations · Full text

Dyt1 Dystonia, Neuroscience, Experimental Neuropathology +1

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic et al. · Journal of Neurochemistry · 2017 · 77 citations

Hereditary Neuropathies, Frequent Genes, Genetics +17

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

Anja K. Mayer, Klaus Rohrschneider, Tim M. Strom et al. · European Journal of Human Genetics · 2015 · 39 citations · Full text

Systems Biology, Homozygosity Mapping, Engineering +11