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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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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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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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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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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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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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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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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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Non-invasive prenatal screening tests – update 2022

Journal of laboratory medicine, 2022-08, Vol.46 (4), p.311-320

2022

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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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Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery

BMC medicine, 2013-02, Vol.11 (1), p.56-56, Article 56

2013

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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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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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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Molecular cytogenetics, 2019-11, Vol.12 (1), p.48-9, Article 48

2019

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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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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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Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

Gene, 2015-04, Vol.561 (1), p.95-100

2015

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The Role of the European Society of Human Genetics in Delivering Genomic Education

Frontiers in genetics, 2021-09, Vol.12, p.693952-693952

2021

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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

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

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

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

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

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

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

A Comprehensive Molecular Epidemiological Analysis of SARS-CoV-2 Infection in Cyprus from April 2020 to January 2021: Evidence of a Highly Polyphyletic and Evolving Epidemic

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

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

Non-invasive prenatal screening tests – update 2022

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

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery

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)

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

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

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

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

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities

The Role of the European Society of Human Genetics in Delivering Genomic Education

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