Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

The clinical data intelligence project (2015) Sonntag D, Tresp V, Zillner S, Hammon M, Reis A, Fasching P, Sedlmayr M, et al. Journal article DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects (2015) Keßler K, Wunderlich I, Uebe S, Falk N, Gießl A, Brandstätter JH, Popp B, et al. Journal article Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture (2015) Stuart PE, Nair RP, Tsoi LC, Tejasvi T, Das S, Kang HM, Ellinghaus E, et al. Journal article Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment (2015) Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, et al. Journal article Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations (2015) Kraus C, Rau T, Lux P, Erlenbach-Wuensch K, Loehr S, Krumbiegel M, Thiel C, et al. Journal article MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation (2015) Zahnleiter D, Hauer N, Keßler K, Uebe S, Sugano Y, Neuhauss SCF, Gießl A, et al. Journal article Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability (2015) Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, et al. Journal article Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 (2015) Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, et al. Journal article MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects (2015) Hoffjan S, Epplen JT, Reis A, Abou Jamra R Journal article De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015) Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al. Journal article