Petros Kountouris - Genetic Mutations

Author Information

Petros Kountouris is affiliated with the Cyprus Institute of Neurology and Genetics and the Cyprus School of Molecular Medicine, both located in Nicosia, Cyprus. His research focuses on genetics, particularly in the study of haemoglobinopathies, a group of inherited disorders affecting haemoglobin in the blood.

Research Contributions

Petros Kountouris has made significant contributions to the field of genetics, specifically in haemoglobinopathies. His work includes the development and enhancement of databases and information portals like ITHANET, which serve as community resources for haemoglobinopathies. Additionally, he has been involved in international initiatives such as the International Hemoglobinopathy Research Network (INHERENT) to study the role of genetic modifiers in these disorders. His research also extends to evaluating in silico predictors for genetic variants associated with haemoglobinopathies and adapting variant classification frameworks for improved clinical utility.

Aliases

P Kountouris, P. Kountouris, Petros Kountouris

Publication and Citation Metrics

Metric	Value
Total Citation Count	461
h-index	10
Total Paper Count	35

Publications:

P128: ITHANET: AN INFORMATION AND DATABASE COMMUNITY PORTAL FOR HAEMOGLOBINOPATHIES

DOI: 10.1097/01.hs9.0000821604.14130.80

Year: 2022

P117: THE INTERNATIONAL HAEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATIVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HAEMOGLOBINOPATHIES

DOI: 10.1097/01.HS9.0000821560.98552.2f

Year: 2022

Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries

DOI: 10.3390/jpm12040552

Year: 2022

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies

DOI: 10.1101/2022.04.07.484934

Year: 2022

The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies

DOI: 10.1002/ajh.26323

Year: 2021

Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

DOI: 10.1002/humu.24280

Year: 2021

The International Hemoglobinopathy Research Network (INHERENT): An International Initiative to Study the Role of Genetic Modifiers in Hemoglobinopathies

DOI: 10.1182/blood-2021-146078

Year: 2021

Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus

DOI: 10.3324/haematol.2020.260224

Year: 2020

ITHANET: An Information and Database Community Portal for Hemoglobinopathies

DOI: 10.1080/03630269.2020.1717757

Year: 2019

Variant Scoring Based on ClinGen Tools and Hemoglobinopathy-Specific Criteria

DOI: 10.1080/03630269.2020.1719589

Year: 2019

What are Some Common TKIs?

How Do Genetic Mutations Occur?

What is the Role of Precision Medicine in This Context?

What is Genome Editing?

How Does Hydroxyurea Affect Genetic Mutations?

Are there any limitations to ZFNs?

How is Sickle Cell Disease Diagnosed?

How are Neutral Mutations Detected?

Why is Sanger Sequencing Important in Studying Genetic Mutations?

What Are the Treatment Options for Hemophilia?

Partnered Content Networks

Relevant Topics