Koray Boduroğlu
Hacettepe University(TR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Connective tissue disorders research, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Prenatal Screening and Diagnostics
Most-Cited Works
- → Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta(2010)314 cited
- → KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes(2011)241 cited
- → A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling(2013)227 cited
- → Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2(2016)188 cited
- → Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease(2016)147 cited
- → A mutation screen in patients with Kabuki syndrome(2011)129 cited
- → RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome(2015)86 cited
- → A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy(2013)72 cited
- → Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature(2007)71 cited
- → Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women(2004)70 cited