George Koumbaris

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability

Philippos C. Patsalis, Nicos Skordis, Carolina Sismani et al. · American Journal of Medical Genetics Part A · 2005 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A new single‐locus cytogenetic mapping system for maize (<i>Zea mays</i> L.): overcoming FISH detection limits with marker‐selected sorghum (<i>S. propinquum</i> L.) BAC clones

George Koumbaris, Hank W. Bass · The Plant Journal · 2003 · 69 citations · Full text

Life Sciences, Genetics, Plant Sciences +14

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

George Koumbaris, Elena Kypri, Kyriakos Tsangaras et al. · Clinical Chemistry · 2016 · 53 citations · Full text

Medicine, Genetics, Obstetrics +17

9 Mb familial duplication in chromosome band Xp22.2–22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features

Carolina Sismani, Violetta Anastasiadou, Ludmila Kousoulidou et al. · European Journal of Medical Genetics · 2011 · 52 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Paola Evangelidou, Carolina Sismani, Marios Ioannides et al. · Molecular Cytogenetics · 2010 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17