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Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications

PloS one, 2017-02, Vol.12 (2), p.e0171319-e0171319

2017

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Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

PloS one, 2015-08, Vol.10 (8), p.e0135058-e0135058

2015

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Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing

International journal of molecular sciences, 2023-07, Vol.24 (14), p.11834

2023

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MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

PloS one, 2018-06, Vol.13 (6), p.e0199010-e0199010

2018

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Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis

Frontiers in oncology, 2022-03, Vol.12, p.855463-855463

2022

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Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma

Cancers, 2021-01, Vol.13 (2), p.198

2021

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Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR

Molecular genetics & genomic medicine, 2020-02, Vol.8 (2), p.e1094-n/a

2020

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Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

Nature medicine, 2011-04, Vol.17 (4), p.510-513

2011

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FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

Human molecular genetics, 2011-05, Vol.20 (10), p.1925-1936

2011

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Clinical and molecular characterization of a second case of 7p22.1 microduplication

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1200-1203

2012

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The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

Genes, 2014-04, Vol.5 (2), p.310-329

2014

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Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Molecular cytogenetics, 2010-11, Vol.3 (1), p.24-24, Article 24

2010

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Reply to: Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis

Nature medicine, 2012-09, Vol.18 (9), p.1328-1329

Patsalis, Philippos C

2012

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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Molecular cytogenetics, 2008-07, Vol.1 (1), p.15-15, Article 15

2008

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Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

Clinical chemistry (Baltimore, Md.), 2016-06, Vol.62 (6), p.848-855

2016

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Targeted pharmacologic inhibition of S-phase kinase-associated protein 2 (SKP2) mediated cell cycle regulation in lung and other RB-Related cancers: A brief review of current status and future prospects

Advances in biological regulation, 2023-05, Vol.88, p.100964-100964, Article 100964

2023

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Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel

Oncology letters, 2023-01, Vol.25 (1), p.1, Article 38

2023

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Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies

The American journal of pathology, 2009-05, Vol.174 (5), p.1609-1618

2009

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Breakage-Fusion-Bridge Cycles Causing Chromosome Instability in Human Cleavage Stage Embryos

Human mutation, 2011-07, Vol.32 (7), p.v-v

Patsalis, Philippos C.

2011

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Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

BioMed research international, 2013-01, Vol.2013 (2013), p.1-14

2013

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Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Genome medicine, 2012-05, Vol.4 (5), p.46-46

2012

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Guidelines for molecular karyotyping in constitutional genetic diagnosis

European journal of human genetics : EJHG, 2007-11, Vol.15 (11), p.1105-1114

2007

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Comment on "Technical concerns on the clinical validation of the NIFTY test"

Prenatal diagnosis, 2013-12, Vol.33 (13), p.1308-1309

2013

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Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing

MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT

Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis

Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus from November 2020 to October 2021: The Passage of Waves of Alpha and Delta Variants of Concern

Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma

Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

Clinical and molecular characterization of a second case of 7p22.1 microduplication

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations

Reply to: Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

Targeted pharmacologic inhibition of S-phase kinase-associated protein 2 (SKP2) mediated cell cycle regulation in lung and other RB-Related cancers: A brief review of current status and future prospects

Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel

Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies

Unraveling the Dynamics of Omicron (BA.1, BA.2, and BA.5) Waves and Emergence of the Deltacton Variant: Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus (Oct 2021–Oct 2022)

Breakage-Fusion-Bridge Cycles Causing Chromosome Instability in Human Cleavage Stage Embryos

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Comment on "Technical concerns on the clinical validation of the NIFTY test"

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