Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020) Polla DL, Bhoj EJ, Verheij JB, Wassink-Ruiter JS, Reis A, Deshpande C, Gregor A, et al. Journal article A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy (2020) Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C Journal article 7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder (2020) Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C Journal article Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants (2020) Popp B, Erber R, Kraus C, Vasileiou G, Hoyer J, Burghaus S, Hartmann A, et al. Journal article Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020) Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, et al. Journal article Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis (2020) Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, et al. Journal article Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article MOLECULAR DIAGNOSIS OF KIDNEY TRANSPLANT FAILURE BY THE URINE (2019) Knaup K, Wiesener A, Buettner-Herold M, Dieterle A, Morath C, Vondran FWR, Wald A, et al. Conference contribution Delineation of the clinical phenotype caused by de novo CLTC variants (2019) Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, 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