Prof. Dr. Heinrich Sticht

Professur für Bioinformatik

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 De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies (2019) Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al. Conference contribution Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (2019) Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, De Crescenzo A, Kotzaeridou U, et al. Conference contribution Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019) Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al. Conference contribution Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019) Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al. Conference contribution Phenotype of the first patient harboring a de novo in-frame deletion in the LisH (LIS1 homology) domain of the WDR26 gene (2019) Steindl K, Kraemer D, Gogoll L, Zanoni P, Sticht H, Rauch A Conference contribution Exploring the phenotypical spectrum of BRD4 defects (2019) Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, et al. Conference contribution Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (2019) Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, et al. Journal article Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019) Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al. Journal article Whole-exome sequencing identifies novel causative variants and expands the phenotypic spectrum of PLK4-related primary microcephaly (2019) Boonsawat P, Asadollahi R, Niedrist D, Joset P, Wisser J, Budka H, Bode PK, et al. Conference contribution