Lehrstuhl für Humangenetik

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8–16-mer Oligomer Species (2019) Kiechle M, von Einem B, Höfs L, Voehringer P, Grozdanov V, Markx D, Parlato R, et al. Journal article β1 and β3 subunits amplify mechanosensitivity of the cardiac voltage-gated sodium channel Nav1.5 (2019) Maroni M, Körner J, Schüttler J, Winner B, Lampert A, Eberhardt E Journal article Skeletal abnormalities are common features in Ayme-Gripp syndrome (2019) Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, et al. Journal article Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article MOLECULAR DIAGNOSIS OF KIDNEY TRANSPLANT FAILURE BY THE URINE (2019) Knaup K, Wiesener A, Buettner-Herold M, Dieterle A, Morath C, Vondran FWR, Wald A, et al. Conference contribution Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019) Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al. Conference contribution Delineation of the clinical phenotype caused by de novo CLTC variants (2019) Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Conference contribution Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019) Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al. Conference contribution Skeletal defects and defective osteoclast and osteoblast function in Ayme-Gripp syndrome (2019) Niceta M, Del Fattore A, Barbuti D, Rossi M, Stellacci E, Gupta N, Ruggiero C, et al. Conference contribution