Prof. Dr. Heinrich Sticht

Professur für Bioinformatik

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 De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Conference contribution Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019) Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al. Conference contribution