Bart L. Loeys - Genetic Mutations

Author Information

Bart L. Loeys is affiliated with the Department of Clinical Genetics at Radboud University Medical Center in Nijmegen, the Netherlands. He is a prominent figure in the field of genetics and has contributed extensively to research in this domain.

Research Contributions

Bart L. Loeys has a prolific research career focused on genetic disorders, particularly those affecting the cardiovascular system and connective tissues. His recent work in 2022 includes studies on induced pluripotent stem cells (iPSCs) for modeling neurotoxicity, cardiomyopathies, and the differentiation of iPSCs into various cell types such as cardiomyocytes and chondrocytes. He has also contributed to understanding the genetic basis of Brugada syndrome and Marfan syndrome, as well as the molecular landscape of thoracic aortic aneurysmal disease.

Aliases

Bart L. Loeys is also known by several aliases, including B Loeys, Bart L Loeys, B L Loeys, Bart Loeys, Bart L. Loeys, B.l. Loeys, and B. L. Loeys.

Publication and Citation Metrics

Metric	Value
Citation Count	23,993
h-index	72
Paper Count	385

Publications:

Luminescent Human iPSC-Derived Neurospheroids Enable Modeling of Neurotoxicity After Oxygen-glucose Deprivation.

DOI: 10.1007/s13311-022-01212-z

Year: 2022

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

DOI: 10.1093/eurheartj/ehab895

Year: 2022

Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes

DOI: 10.1242/bio.059016

Year: 2022

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

DOI: 10.1038/s41588-022-01079-y

Year: 2022

Generation of two induced pluripotent stem cell (iPSC) lines (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying an SCN5A mutation

DOI: 10.1016/j.scr.2022.102719

Year: 2022

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

DOI: 10.1016/j.gim.2021.12.015

Year: 2022

The fibrillinopathies: new insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

DOI: 10.1002/humu.24383

Year: 2022

Update on the molecular landscape of thoracic aortic aneurysmal disease.

DOI: 10.1097/HCO.0000000000000954

Year: 2022

Differentiation of Induced Pluripotent Stem Cells Into Chondrocytes: Methods and Applications for Disease Modeling and Drug Discovery

DOI: 10.1002/jbmr.4524

Year: 2022

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

DOI: 10.1038/s41588-021-01007-6

Year: 2022

What Role does Genetic Counseling Play?

What Research is Being Done on Sickle Cell Anemia?

What Are the Implications of Genetic Research?

What Future Research is Needed?

Is Autism Spectrum Disorder Genetic?

Can Mutations be Repaired?

How are CNVs Detected?

Can Gene Amplification Be Targeted Therapeutically?

What is Gene Therapy?

What are the advantages of using ZFNs?

Partnered Content Networks

Relevant Topics