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Vasiliki Karageorgou

Observed names: Karageorgou, Vasiliki, V. Karageorgou, Vasiliki (Vicky) Karageorgou
Institution: Panteion University
ORCID: 0000-0002-6407-5963
Observed ORCID: 0000-0002-6407-5963
OpenAlex ID: A5003698390
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination
2014 · A. Bashamboo, R. Brauner, et al. · Human Molecular Genetics · 103
Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias
2011 · Slimane Allali, Jean-Baptiste Muller, et al. · PLoS ONE · 95
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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
2021 · Aida M. Bertoli-Avella, Krishna K. Kandaswamy, et al. · Genetics in Medicine · 61
Current and Emerging Treatment Modalities for Leber’s Hereditary Optic Neuropathy: A Review of the Literature
2018 · Anna Theodorou-Kanakari, Spyridon Karampitianis, et al. · Advances in Therapy · 35
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
2021 · Dana Marafi, Jawid M Fatih, et al. · Brain · 31
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
2022 · Ricardo Moreno Traspas, Tze Shin Teoh, et al. · Nature Genetics · 27
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
2023 · Ruizhi Deng, Eva Medico-Salsench, et al. · Acta Neuropathologica · 24
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
2021 · Maria Iqbal, Reza Maroofian, et al. · Genetics in Medicine · 24
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Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
2021 · Salem Alawbathani, Ana Westenberger, et al. · Clinical Genetics · 20
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
2020 · Shereen G. Ghosh, Marcello Scala, et al. · European Journal of Human Genetics · 19
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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
2022 · Eissa A. Faqeih, Malak Ali Alghamdi, et al. · Genetics in Medicine · 15
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
2021 · Aida Bertoli-Avella, Ronja Hotakainen, et al. · Journal of Medical Genetics · 10
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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues
2023 · Daphne J. Smits, Rachel Schot, et al. · Human Genetics · 8
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Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
2022 · Malak Ali Alghamdi, Hicham Benabdelkamel, et al. · Frontiers in Genetics · 7
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VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features
2019 · Christian Beetz, Najim Ameziane, et al. · Clinical Genetics · 6
Author response for "Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities"
2021 · Alawbathani, Salem, Westenberger, Ana, et al. · Publons reviews and discussion · 1
The EU Regulatory Framework to Deal with the Environmental Effects of the Mining Activities - Assessing the Effectiveness
2016 · Vasiliki (Vicky) Karageorgou · European Energy and Environmental Law Review · 1
Intra-environmental Conflicts in the Context of the Sustainable Energy Transition at the EU Level: Analyzing the Respective Legislative Developments (RED III Directive) and the Role of the Principles of EU Environmental Law
2026 · Vasiliki Karageorgou · Studia Prawnicze / The Legal Studies
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P576: Impact of processed pseudogene insertions in genetic testing as cause of monogenic diseases: Insertion in CLCN1 gene causing myotonia congenita
2023 · Kornelia Tripolszki, Javier Martini, et al. · Genetics in Medicine Open
A Novel Genetic Syndrome
2019 · Christian Beetz, Najim Ameziane, et al.
Author response for "VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features"
2019 · Christian Beetz, Najim Ameziane, et al. · Publons reviews and discussion
Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants
2019 · Vindhya Lakmali Miyanawala, Christian Beetz, et al. · Journal of Biochemical and Clinical Genetics
Diagnostic Utility of Biomarkers
2019 · Vindhya Lakmali Miyanawala, Christian Beetz, et al.
Author response for "VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features"
2019 · Christian Beetz, Najim Ameziane, et al. · Publons reviews and discussion
Exome Sequencing Reveals a Novel Cause of 46,XY Disorder of Sex Development (DSD)
2011 · Anu Bashamboo, Vasiliki Karageorgou, et al. · The Endocrine Society eBooks
Works count: 26
Citation count: 487
H-index: 11
I10-index: 12
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