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Helen Fryssira

Observed names: Frysira H, Fryssira Helen, Fryssira-Kanioura Helen, H Fryssira, H. Fryssira, Helen Frysira, Helen Fryssira-Kanioura, Helena E. Fryssira-Kanioura, Helena Frysira, Helena Fryssira, Ηelen Fryssira
ORCID: 0000-0002-8016-2004
Observed ORCID: 0000-0002-8016-2004
OpenAlex ID: A5000764907
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment
2005 · A Del Fattore, B Peruzzi, et al. · Journal of Medical Genetics · 181
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PRKAR1A and PDE4D Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance
2012 · Agnès Linglart, Helena Fryssira, et al. · The Journal of Clinical Endocrinology & Metabolism · 116
Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families
2014 · Periklis Makrythanasis, Mari Nelis, et al. · Human Mutation · 86
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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
2013 · M. Reza Sailani, Periklis Makrythanasis, et al. · Genome Research · 81
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A Clinical Study of Sotos Syndrome Patients With Review of the Literature
2009 · George Leventopoulos, Sophia Kitsiou-Tzeli, et al. · Pediatric Neurology · 81
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
2005 · C Howald, G Merla, et al. · Journal of Medical Genetics · 72
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)
2013 · Martha Spilioti, Athanasios E. Evangeliou, et al. · Frontiers in Human Neuroscience · 71
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Schimke immunoosseous dysplasia: suggestions of genetic diversity
2006 · J. Marietta Clewing, Helen Fryssira, et al. · Human Mutation · 62
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Clinical manifestations in 17 Greek patients with Goldenhar syndrome.
2006 · V Touliatou, H Fryssira, et al. · PubMed · 60
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
2014 · Dorien Schepers, Alexander J Doyle, et al. · European Journal of Human Genetics · 58
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Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic Karyotype
2007 · Ch. Kanaka-Gantenbein, E. Papandreou, et al. · Hormone Research in Paediatrics · 54
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
Mutation spectrum and phenotypic manifestation in FSHD Greek patients
2012 · P. Sakellariou, K. Kekou, et al. · Neuromuscular Disorders · 53
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
2018 · Maria Tsipi, Myrto Poulou, et al. · Journal of the Neurological Sciences · 45
Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population
2005 · Stella Amenta, Christalena Sofocleous, et al. · Pediatric Research · 45
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 · 43
Tumor development in three patients with Noonan syndrome
2007 · Helen Fryssira, George Leventopoulos, et al. · European Journal of Pediatrics · 42
Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
2005 · S Kitsiou-Tzeli, A Kolialexi, et al. · PubMed · 41
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease
2013 · Areti Syrmou, Maria Tzetis, et al. · Pediatric Research · 40
Dental Abnormalities in Schimke Immuno-osseous Dysplasia
2012 · M. Morimoto, O. Kérourédan, et al. · Journal of Dental Research · 38
Further delineation of novel 1p36 rearrangements by array-CGH analysis: Narrowing the breakpoints and clarifying the “extended” phenotype
2012 · Krinio Giannikou, Helen Fryssira, et al. · Gene · 37
Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
1997 · H Fryssira, R Palmer, et al. · Journal of Medical Genetics · 37
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FOXI3 pathogenic variants cause one form of craniofacial microsomia
2023 · Ke Mao, Christelle Borel, et al. · Nature Communications · 36
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COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: An exploratory study
2013 · Dimitrios Kontis, Eirini Theochari, et al. · Neuroscience Letters · 36
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
2014 · Vanessa A van Rahden, Isabella Rau, et al. · Orphanet Journal of Rare Diseases · 34
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Works count: 103
Citation count: 2,262
H-index: 30
I10-index: 56
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