Michaela Thoenes

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 183 citations · Full text

A mutation screen in patients with Kabuki syndrome

Yun Li, Nina Bögershausen, Yasemin Alanay et al. · Human Genetics · 2011 · 128 citations

Down Syndrome, Mendelian Disorder, Genetic Disorder +5

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Louise A. Stephen, Hasan Tawamie, Gemma M. Davis et al. · eLife · 2015 · 92 citations · Full text

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

Ghada M. H. Abdel‐Salam, Michaela Thoenes, Hanan H. Afifi et al. · Orphanet Journal of Rare Diseases · 2014 · 87 citations · Full text

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann et al. · Orphanet Journal of Rare Diseases · 2015 · 59 citations · Full text