Christalena Sofocleous

De novo interstitial duplication of the 15q11.2‐q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature

Sophia Kitsiou‐Tzeli, Maria Tzetis, Christalena Sofocleous et al. · American Journal of Medical Genetics Part A · 2010 · 74 citations

Life Sciences, Genetics, Molecular Genetics +17

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis

Christina Vrettou, Joanne Traeger‐Synodinos, Maria Tzetis et al. · Human Mutation · 2004 · 71 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation spectrum and phenotypic manifestation in FSHD Greek patients

P. Sakellariou, Kyriaki Kekou, Helen Fryssira et al. · Neuromuscular Disorders · 2012 · 52 citations

Life Sciences, Endocrinology, Genetics +14

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

Nikolaos M. Marinakis, Maria Svingou, Danai Veltra et al. · American Journal of Medical Genetics Part A · 2021 · 51 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

Stella Amenta, Christalena Sofocleous, A Kolialexi et al. · Pediatric Research · 2005 · 47 citations

Life Sciences, Genetics, Molecular Genetics +8