Danai Veltra

Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype

S. Gagos, C. Sofocleous, S. Zachaki, 2020, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

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

J. Traeger-Synodinos, C. Sofocleous, H. Fryssira, 2021, American journal of medical genetics. Part A.

Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene

J. Traeger-Synodinos, C. Kanaka-Gantenbein, C. Sofocleous, 2022, Menopause.

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

P. Vorgia, M. Tzetis, J. Traeger-Synodinos, 2023, Expert review of molecular diagnostics.

A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype

J. Traeger-Synodinos, C. Sofocleous, K. Kosma, 2022, American journal of medical genetics. Part A.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

J. Howe, J. Buxbaum, B. Wirth, 2022, Brain : a journal of neurology.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

M. Tzetis, J. Traeger-Synodinos, P. Makrythanasis, 2023, Genes.

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity

M. Tzetis, C. Sofocleous, Danai Veltra, 2023, Expert review of molecular diagnostics.