Institute of Human Genetics

The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 (2018) Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel C, Sticht H, Berghoff M, et al. Journal article Single-cell RNA sequencing of adult mouse testes (2018) Lukassen S, Bosch E, Ekici AB, Winterpacht A Journal article FoxO Function Is Essential for Maintenance of Autophagic Flux and Neuronal Morphogenesis in Adult Neurogenesis (2018) Schäffner I, Minakaki G, Khan MA, Balta EA, Schlötzer-Schrehardt U, Schwarz TJ, Beckervordersandforth R, et al. Journal article Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu (2018) Kraus C, Uebe S, Thiel C, Ekici AB, Reis A, Zweier C Journal article Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium (2018) Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Ploetz S, et al. Journal article Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy (2018) Pasutto F, Ekici AB, Reis A, Kremers J, Huchzermeyer C Journal article Is MED13L-related intellectual disability a recognizable syndrome? (2018) Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, et al. Journal article CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria (2018) Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching P, Thiel C, et al. Journal article