Almuth Caliebe
Christian-Albrechts-Universität zu Kiel(DE)University Hospital Schleswig-Holstein(DE)University of Lübeck(DE)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics, Epigenetics and DNA Methylation, Genetic Syndromes and Imprinting, RNA modifications and cancer
Most-Cited Works
- → STXBP1 encephalopathy(2016)310 cited
- → Mutational spectrum in a worldwide study of 29,700 families withBRCA1orBRCA2mutations(2018)305 cited
- → A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling(2013)227 cited
- → Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly(2012)215 cited
- → Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy(2013)208 cited
- → Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes(2014)197 cited