Anne Katrin Lampe

Publications by Year

Research Areas

Metabolism and Genetic Disorders, RNA Research and Splicing, Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Muscle Physiology and Disorders

Most-Cited Works

• → Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing(2016)464 cited
• → Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome(2002)216 cited
• → Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis(2013)174 cited
• → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited
• → Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy(2005)139 cited
• → ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder(2017)137 cited
• → Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance(2008)91 cited
• → Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome(2013)87 cited
• → Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases(2017)49 cited
• → De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome(2019)46 cited