Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany (2021) Haskamp S, Horowitz J, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, et al. Journal article Clinical and molecular delineation of spondylocostal dysostosis type 3 (2021) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Journal article Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder (2021) Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C Journal article Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution Common RUNX3 missense variant contributes to psoriatic arthritis by affecting splicing and modifying signaling, activation and differentiation of T-cells (2020) Hüffmeier U, Löhr S, Uebe S, Popp B, Bowes J, Kirchner P, Giardina E, et al. Conference contribution Exome Pool-Seq Reloaded (2020) Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al. Conference contribution Further clinical and molecular delineation of Alazami syndrome associated with variants in LARP7 (2020) Gümüslü E, Karaer K, Gumus E, Ekici AB, Kraus C, Reis A Conference contribution Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Conference contribution Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020) Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution