Andreas W. Kuß

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi‐Moheb, Sara Mertel, Melanie Gonsior et al. · The American Journal of Human Genetics · 2012 · 269 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, Christina Roehr et al. · PLoS ONE · 2010 · 240 citations · Full text

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

Joanna Walczak‐Sztulpa, Jonathan Eggenschwiler, Daniel P. S. Osborn et al. · The American Journal of Human Genetics · 2010 · 204 citations · Full text

Developmental Anomaly, Cranioectodermal Dysplasia, Mendelian Disorder +11

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Alena Čížková, Viktor Stránecký, Johannes A. Mayr et al. · Nature Genetics · 2008 · 197 citations

Mitochondrial Myopathy, Neonatal Mitochondrial Encephalocardiomyopathy, Mitochondrial Biogenesis +8

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

Asif Mir, Liana Kaufman, Abdul Noor et al. · The American Journal of Human Genetics · 2009 · 127 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6