Eunice G. Stefanou

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

Lusine Nazaryan, Eunice G. Stefanou, Claus Hansen et al. · European Journal of Human Genetics · 2013 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

45,X/46,XY mosaicism: a cause of short stature in males

Alexandra Efthymiadou, Eunice G. Stefanou, Dionisios Chrysis · HORMONES · 2012 · 19 citations · Full text

Life Sciences, Genetics, Pediatrics +13

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

Guillaume Jedraszak, Florence Jobic, Aline Receveur et al. · American Journal of Medical Genetics Part A · 2023 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins et al. · medRxiv · 2022 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16