Susann Schweiger

Biguanide metformin acts on tau phosphorylation via mTOR/protein phosphatase 2A (PP2A) signaling

Eva Kickstein, Paul Thornhill, Désirée Rutschow et al. · Proceedings of the National Academy of Sciences · 2010 · 412 citations · Full text

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Nandita Quaderi, Susann Schweiger, Karin Gaudenz et al. · Nature Genetics · 1997 · 367 citations

Developmental Anomaly, Opitz G/bbb Syndrome, Developmental Biology +7

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

Alexander Trockenbacher, Vanessa Suckow, John Foerster et al. · Nature Genetics · 2001 · 289 citations

Genome Instability, Mendelian Disorder, Genetic Disorder +10

Elevated levels of Rad51 recombination protein in tumor cells.

Elke Raderschall, Karen Stout, Susanne Freier et al. · PubMed · 2002 · 261 citations

Tumor Biology, Genome Instability, Rad51 Mrna Levels +14

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 180 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +13