Johanna Christina Czeschik

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text

TNF-α differentially modulates ion channels of nociceptive neurons

Johanna Christina Czeschik, Tim Hagenacker, Maria Schäfers et al. · Neuroscience Letters · 2008 · 147 citations

Molecular Neuroscience, Neurophysiology, Pain Medicine +10

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler, Alexander M. Zink, Thomas Wieland et al. · European Journal of Human Genetics · 2014 · 143 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 124 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik et al. · Bioinformatics · 2014 · 92 citations · Full text