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L. Kousoulidou · SciRah

Researcher profile · Semantic Scholar

L. Kousoulidou

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L. Kousoulidou — researcher profile on SciRah

h-index: 10
Works: 33
Citations: 261

Most-cited papers

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability
P. Patsalis, N. Skordis, C. Sismani, L. Kousoulidou +9 more
2005American Journal of Medical Genetics. Part A64 citations
Semantic Scholar
263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
L. Kousoulidou, G. Tanteles, Maria Moutafi, C. Sismani +2 more
2013European Journal of Medical Genetics22 citations
Semantic Scholar
9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
C. Sismani, V. Anastasiadou, L. Kousoulidou, S. Parkel +6 more
2011European Journal of Medical Genetics21 citations
Semantic Scholar
MAPH: from gels to microarrays.
P. Patsalis, L. Kousoulidou, C. Sismani, K. Männik +1 more
2005European Journal of Medical Genetics18 citations
Semantic Scholar
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization
P. Patsalis, L. Kousoulidou, K. Männik, C. Sismani +7 more
2007European Journal of Human Genetics16 citations Open access
Semantic Scholar
Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.
C. Koufaris, G. Papagregoriou, L. Kousoulidou, Maria Moutafi +8 more
2015Gene14 citations
Semantic Scholar
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population
C. Sismani, S. Rapti, Pavlina Iliopoulou, Anastasia Spring +16 more
2020Journal of Human Genetics13 citations
Semantic Scholar
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
S. Bashiardes, L. Kousoulidou, H. van Bokhoven, H. Ropers +6 more
2009Journal of Molecular Diagnostics11 citations Open access
Semantic Scholar
Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes
L. Kousoulidou, K. Männik, C. Sismani, O. Žilina +7 more
2008Nature Protocols11 citations
Semantic Scholar
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
L. Kousoulidou, S. Parkel, O. Žilina, P. Palta +14 more
2007European Journal of Medical Genetics10 citations
Semantic Scholar
The Distribution in Different Strains and Characteristic Features of Two Subfamilies of Drosophila melanogaster Retrotransposon MDG4 (gypsy)
O. Razorenova, N. Karpova, Y. B. Smirnova, L. Kousoulidou +5 more
2001Russian Journal of Genetics10 citations
Semantic Scholar
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou +21 more
2025PLoS ONE8 citations Open access
Semantic Scholar
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies
Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, P. Evangelidou +10 more
2024Genes7 citations Open access
Semantic Scholar
Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH).
L. Kousoulidou, C. Sismani, P. Patsalis
2010Methods in molecular biology7 citations
Semantic Scholar
An unusual combination of an atypical maternally inherited novel 0.3Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
P. Evangelidou, L. Kousoulidou, Nicole Salameh, Angelos Alexandrou +7 more
2020European Journal of Medical Genetics5 citations
Semantic Scholar
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
P. Grigori, Elena Panayiotou, C. Sismani, G. Koumbaris +5 more
2011European Journal of Medical Genetics5 citations
Semantic Scholar
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, N. Nicolaou +7 more
2023Molecular Cytogenetics4 citations Open access
Semantic Scholar
De novo mosaic MECP2 mutation in a female with Rett syndrome
Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Alexandrou, Athina Theodosiou +5 more
2019Clinical Case Reports4 citations Open access
Semantic Scholar
Two unrelated individuals carrying rare mosaic deletions in TCF4 gene
L. Kousoulidou, Angelos Alexandrou, Ioannis Papaevripidou, P. Evangelidou +3 more
2018American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report
Anna-Maria Anastasiou, Constantia Aristidou, Athina Theodosiou, L. Kousoulidou +7 more
2025Frontiers in Genetics3 citations Open access
Semantic Scholar
Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH
L. Kousoulidou, Maria Moutafi, P. Nicolaides, S. Hadjiloizou +5 more
2013BioMed Research International3 citations Open access
Semantic Scholar
Multiplex Amplifiable Probe Hybridization (MAPH)
C. Sismani, L. Kousoulidou, P. Patsalis
20082 citations
Semantic Scholar
Application of two different microarray-based copy-number detection methodologies – array-comparative genomic hybridization and array-multiplex amplifiable probe hybridization – with identical amplifiable target sequences
L. Kousoulidou, K. Männik, O. Žilina, S. Parkel +4 more
2008Clinical Chemistry and Laboratory Medicine1 citations
Semantic Scholar
Mobile Genetic Element gypsy(MDG4) in Drosophila melanogasterStrains: Structural Characteristics and Regulation of Transposition
L. Kousoulidou, N. Karpova, O. Razorenova, I. Glukhov +3 more
2001Russian Journal of Genetics1 citations
Semantic Scholar
Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing
Athina Theodosiou, L. Kousoulidou, Ioannis Papaevripidou, Constantia Aristidou +14 more
2026Genes0 citations Open access
Semantic Scholar
Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS
Nicole Salameh, Athina Theodosiou, L. Kousoulidou, Ioannis Papaevripidou +9 more
2026Reproduction and Fertility0 citations Open access
Semantic Scholar
Investigating the “Dark” Genome: First Report of Partington Syndrome in Cyprus
Constantia Aristidou, Athina Theodosiou, P. Antoniou, Angelos Alexandrou +13 more
2025Genes0 citations
Semantic Scholar
Development and validation of the “chromosome X exon-specific array” and screening of 20 XLMR families: a targeted approach to identify genes associated with XLMR
L. Kousoulidou, S. Bashiardes, H. van Bokhoven, H. Ropers +6 more
20070 citations
Semantic Scholar
Development and validation of the "chromosome X exon-specific array" that enables identification of copy number changes in genes of the X chromosome
L. Kousoulidou, S. Bashiardes, H. van Bokhoven, H. Ropers +6 more
20070 citations
Semantic Scholar
O31: Array-MAPH: a novel microarray technology for genomic analysis
L. Kousoulidou, K. Männik, Stavros Bashiardis, G. Koumbaris +7 more
20050 citations
Semantic Scholar
P22: MAPH Designer – a web-based program for designing hybridization probes for the new array-MAPH method and array-CGH
P. Palta, A. Kurg, T. Möls, K. Männik +3 more
20050 citations
Semantic Scholar
Posters Presentations: P3-313–P3-500
E. Écosse, I. Bastié-Sigeac, S. Cabrol, M. Tauber +22 more
2004Hormone Research in Paediatrics0 citations Open access
Semantic Scholar
Chromosomal imbalance letter 9 Mb familial duplication in chromosome band Xp22.2e22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
C. Sismani, V. Anastasiadou, L. Kousoulidou, S. Parkel +6 more
0 citations
Semantic Scholar

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