Carsten Werner Lederer - Genetic Mutations

Author Information

Carsten Werner Lederer is a distinguished researcher affiliated with the Department of Molecular Genetics Thalassaemia at The Cyprus Institute of Neurology and Genetics, located at 6 International Airport Avenue, 1683, Nicosia, Cyprus. His research primarily focuses on genetics, particularly in the areas of haemoglobinopathies, gene editing, and erythroid biology.

Research Contributions

Carsten Werner Lederer has made significant contributions to the field of genetics through a variety of published works. In 2022, he authored impactful studies such as "CRISPR Editing Enables Consequential Tag-Activated MicroRNA-Mediated Endogene Deactivation" and "Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries." His research spans across advanced therapies for prenatal and childhood applications, haemoglobinopathy databases, and gene editing techniques for treating blood disorders. His work on the adaptation of the ACMG/AMP variant classification framework and the characterization of iron complexes in β-thalassaemia patients demonstrates his depth of expertise and commitment to improving genetic understanding and treatments.

Aliases

Carsten Werner Lederer is also known by several aliases including Carsten W Lederer, Carsten Lederer, C Lederer, and C. Lederer.

Publication and Citation Metrics

Metric	Value
Citation Count	1096
h-Index	18
Paper Count	64

Publications:

CRISPR Editing Enables Consequential Tag-Activated MicroRNA-Mediated Endogene Deactivation

DOI: 10.3390/ijms23031082

Year: 2022

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

DOI: 10.1097/01.hs9.0000821604.14130.80

Year: 2022

Catching Them Early: Framework Parameters and Progress for Prenatal and Childhood Application of Advanced Therapies

DOI: 10.3390/pharmaceutics14040793

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

Editorial: Mutation-Specific Gene Editing for Blood Disorders

DOI: 10.3389/fgeed.2021.761771

Year: 2021

Regulation of ER Composition and Extent, and Putative Action in Protein Networks by ER/NE Protein TMEM147

DOI: 10.3390/ijms221910231

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

Characterization of Iron Complexes in the Red Blood Cells of β-thalassaemia patients using 57Fe Mössbauer Spectroscopy

DOI: 10.1016/j.molstruc.2020.129732

Year: 2021

Distinct miRNA Signatures and Networks Discern Fetal from Adult Erythroid Differentiation and Primary from Immortalized Erythroid Cells

DOI: 10.3390/ijms22073626

Year: 2021

Therapy Development by Genome Editing of Hematopoietic Stem Cells

DOI: 10.3390/cells10061492

Year: 2021

How are Neutral Mutations Detected?

How Does Sickle Cell Disease Affect Population Genetics?

Should Genetic Mutations Be Patented?

What Types of Cancers Are Linked to Asbestos Exposure?

What Is the Role of Genetics in Cognitive Development?

How do ZFNs function?

What is Genetic Diversity?

What Are the Common Types of Errors?

Why Are Neutral Mutations Important?

How Are Translocations Diagnosed?

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