Institute of Human Genetics

Two truncating variants in FANCC and breast cancer risk (2019) Dork T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, et al. Journal article 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 CRISPR/Cas9-mediated knock-out of krasG12D mutated pancreatic cancer cell lines (2019) Lentsch E, Li L, Pfeffer S, Ekici AB, Taher L, Pilarsky C, Grützmann R 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 Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly (2019) Richard EM, Polla DL, Assir MZ, Contreras M, Shahzad M, Khan AA, Razzaq A, et al. Journal article CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al. Conference contribution 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