Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021) De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al. Conference contribution The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse (2021) Wittmann MT, Katada S, Sock E, Kirchner P, Ekici AB, Wegner M, Nakashima K, et al. Journal article, Original article Genetic variability of lymphangiogenesis in Collaborative Cross mice: a powerful tool to identify novel endogenous regulators of lymphangiogenesis (2021) Clahsen T, Büttner C, Hatami N, Nuest F, Gabriel T, Reis A, Cursiefen C Conference contribution Cystathionine beta-synthase as novel regulator of lymphangiogenesis (2021) Hatami N, Büttner C, Bock F, Simfors S, Reis A, Cursiefen C, Clahsen T Conference contribution Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis (2021) Fasching P, Yadav S, Hu C, Wunderle M, Häberle L, Hart SN, Rübner M, et al. Journal article Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye (2021) Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, et al. Journal article Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (Journal of Molecular Medicine, (2021), 10.1007/s00109-021-02124-9) (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article, Erratum Genome sequencing in families with congenital limb malformations (2021) Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, et al. Journal article