Bernd Wollnik
Institute for Small Business Economics(DE)German Centre for Cardiovascular Research(DE)University of Göttingen(DE)
Publications by Year
Research Areas
Connective tissue disorders research, Genomic variations and chromosomal abnormalities, DNA Repair Mechanisms, Genomics and Rare Diseases, RNA modifications and cancer
Most-Cited Works
- → Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death(2007)933 cited
- → Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia(2003)628 cited
- → Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta(2011)359 cited
- → Mutations in WNT1 Cause Different Forms of Bone Fragility(2013)281 cited
- → Mutations in PYCR1 cause cutis laxa with progeroid features(2009)252 cited
- → tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia(2008)252 cited