Lehrstuhl für Humangenetik

A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine (2021) Bach C, Knaup K, Herrmann M, Krumbiegel M, Pfister F, Büttner-Herold M, Steffen M, et al. Journal article Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities (2021) Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, et al. Journal article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article 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 DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Crnkl1 is a highly selective regulator of intron-retaining HIV-1 and cellular mrnas (2021) Xiao H, Wyler E, Milek M, Grewe B, Kirchner P, Ekici AB, Silva ABOV, 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 Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al. Conference contribution