Seval Türkmen

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman et al. · The American Journal of Human Genetics · 2005 · 334 citations · Full text

Sotos Syndrome, Genotype-phenotype Associations, Genetic Disorder +7

Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts

Olga Blau, Claudia D. Baldus, Wolf‐Karsten Hofmann et al. · Blood · 2011 · 168 citations · Full text

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

Seval Türkmen, Gao Guo, Masoud Garshasbi et al. · PLoS Genetics · 2009 · 150 citations · Full text

Genetics, Disease Gene Identification, Mild Mental Retardation +19

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak et al. · Human Molecular Genetics · 2009 · 139 citations · Full text

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Seval Türkmen, Gabriele Gillessen‐Kaesbach, Peter Meinecke et al. · European Journal of Human Genetics · 2003 · 129 citations · Full text

Biology, Sotos Syndrome, Developmental Biology +9