Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome (2018) Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C Journal article Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018) Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al. Journal article De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients (2018) Wunderle M, Gaß P, Häberle L, Flesch VM, Rauh C, Bani M, Hack C, et al. Journal article Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition (2018) Knaup K, Hackenbeck T, Popp B, Stoeckert J, Wenzel A, Büttner-Herold M, Pfister F, et al. Journal article SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients (2018) Agaimy A, Amin MB, Gill A, Popp B, Reis A, Berney DM, Magi-Galluzzi C, et al. Journal article Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data (2018) Wunderle M, Olmes G, Nabieva N, Häberle L, Jud S, Hein A, Rauh C, et al. Journal article Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability (2018) Scheller U, Pfisterer K, Uebe S, Ekici AB, Reis A, Jamra R, Ferrazzi F Journal article Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations (2018) Wenzel A, Altmueller J, Ekici AB, Popp B, Stueber K, Thiele H, Pannes A, et al. Journal article L- and M-cone driven temporal contrast sensitivity is reduced at low frequencies in patients with Stargardt's disease (2017) Huchzermeyer C, Pasutto F, Wiesmann da Silva Reis A, Kremers J Journal article