M Stefanova

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Gene Deletion Data, Developmental Biology, Array‐cgh Characterization +15

Three cases of two unrelated families with a microduplication 22q11.2: developmental skull defects and phenotype variability

F. Ahlfors, L Grozdanova, Radka Stoeva et al. · European Journal of Human Genetics · 2011 · 101 citations

Developmental Anomaly, Developmental Biology, Genetic Disorder +7

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Toshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss et al. · Journal of Human Genetics · 2014 · 73 citations · Full text

Xq22 Microdeletions, Genetic Disorder, Medicine +7

An excess of chromosome 1 breakpoints in male infertility

Iben Bache, Elvire Van Assche, Sultan Cingöz et al. · European Journal of Human Genetics · 2004 · 61 citations · Full text

Infertility, Fertility, Cytogenetics +8

Expanding the clinical spectrum of the ‘<i><scp>HDAC8</scp></i>‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic et al. · Clinical Genetics · 2015 · 42 citations

Mendelian Disorder, Risk Prediction, Genetic Disorder +15