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Danai Veltra

Observed names: Danae Veltra, Veltra, Danai
ORCID: 0000-0002-6548-0928
Observed ORCID: 0000-0002-6548-0928
OpenAlex ID: A5084084576
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
2021 · Nikolaos M. Marinakis, Maria Svingou, et al. · American Journal of Medical Genetics Part A · 53
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
2023 · Faidon-Nikolaos Tilemis, Nikolaos M. Marinakis, et al. · Genes · 51
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The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
2019 · Vasiliki Zouvelou, Delia Yubero, et al. · European Journal of Paediatric Neurology · 42
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2022 · Lisa Pavinato, Andrea Delle Vedove, et al. · Brain · 40
A programmed decline in ribosome levels governs human early neurodevelopment
2025 · Chunyang Ni, Yudong Wei, et al. · Nature Cell Biology · 17
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
2023 · Afshin Saffari, Tracy Lau, et al. · Brain · 14
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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
2022 · Danai Veltra, Konstantina Kosma, et al. · American Journal of Medical Genetics Part A · 9
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · Dana E. Layo-Carris, Emily E. Lubin, et al. · European Journal of Human Genetics · 8
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The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
2023 · Iordanis Pelagiadis, Ioannis Kyriakidis, et al. · Children · 8
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A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
2024 · Dimitra Siori, Dimitrios Vlachakis, et al. · Genes · 7
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Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies
2024 · Nikolaos M. Marinakis, Faidon-Nikolaos Tilemis, et al. · European Journal of Human Genetics · 5
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SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations
2024 · Danai Veltra, Virginia Theodorou, et al. · International Journal of Molecular Sciences · 5
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
2023 · Danai Veltra, Faidon-Nikolaos Tilemis, et al. · Expert Review of Molecular Diagnostics · 5
Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy
2025 · Elissavet Kollia, Eleftheria Kokkinou, et al. · European Journal of Paediatric Neurology · 3
Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene
2022 · Nikolaos M. Marinakis, Eirini Tsoutsou, et al. · Menopause The Journal of The North American Menopause Society · 3
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
2024 · Dana E. Layo-Carris, Emily E. Lubin, et al. · European Journal of Human Genetics · 2
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Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature
2024 · Danai Veltra, Nikolaos M. Marinakis, et al. · Children · 2
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
2023 · Kyriaki Kekou, Maria Svingou, et al. · Expert Review of Molecular Diagnostics · 2
Insights into the heterogeneity of oculopharyngeal muscular dystrophy
2025 · Kyriaki Kekou, Constantinos Papadopoulos, et al. · Neurogenetics · 1
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Unraveling the Role of WDR91 : Case Report of a Previously Unrecognized Clinical Entity
2025 · Nikolaos M. Marinakis, Afrodite Kampouraki, et al. · Clinical Genetics · 1
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Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype
2020 · Elisavet Kouvidi, Sophia Zachaki, et al. · Gynecological Endocrinology · 1
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome
2026 · Haley McConkey, Liselot van der Laan, et al. · Human Genetics
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Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
2023 · Kekou, Kyriaki, Svingou, Maria, et al. · Figshare
P798: Diamond Blackfan Anemia May Escape Diagnosis up to Adulthood; a Report From the Updated Greek Registry
2023 · Polyxeni Delaporta, Christalena Sofocleous, et al. · HemaSphere
Clinical utility of Whole Exome Sequencing for rare Mendelian disorders: phenotypic-driven strategy for a high diagnostic yield and identification of 48 novel variants
2020 · Nikolaos Marinakis, Danai Veltra, et al.
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Works count: 32
Citation count: 281
H-index: 8
I10-index: 6
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