Yolanda Gyftodimou

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 563 citations · Full text

Mendelian Disorder, Cohesin Acetylation Cycle, Genetic Disorder +8

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Fransiska Malfait, Sofie Symoens, Nathalie Goemans et al. · Orphanet Journal of Rare Diseases · 2013 · 94 citations · Full text

Pure de novo partial trisomy 6p in a girl with craniosynostosis

Konstantinos Varvagiannis, Amalia Stefanidou, Yolanda Gyftodimou et al. · American Journal of Medical Genetics Part A · 2013 · 59 citations

Prenatal diagnosis of glycogen storage disease type IV

Hasan O. Akman, Charalampos Karadimas, Yolanda Gyftodimou et al. · Prenatal Diagnosis · 2006 · 37 citations