Bruno Reversade - Genetic Mutations

Author Information

Dr. Bruno Reversade is affiliated with the Human Genetics and Molecular Biology, Medical Laboratory Sciences, Faculty of Science Institute of Molecular and Cell Biology, A*STAR, Singapore. His research primarily focuses on human genetics and molecular biology.

Research Contributions

Dr. Reversade has made significant contributions to understanding genetic disorders and developmental biology. His recent research includes studying progeroid syndromes, the effects of Ermin deficiency on myelin, and the impact of RAF1 deficiency on human development. He has also explored the role of various genetic mutations in conditions like Huriez syndrome and Shwachman-Diamond syndrome. Additionally, his work on signaling pathways has implications for improving the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes.

Aliases

Dr. Bruno Reversade is also known by the aliases B. Reversade and B Reversade.

Publication and Citation Metrics

Metric	Value
Citation Count	7082
H-Index	44
Paper Count	201

Publications:

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

DOI: 10.1101/2022.02.20.22271260

Year: 2022

Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.

DOI: 10.1111/bpa.13064

Year: 2022

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

DOI: 10.1038/s41588-022-01013-2

Year: 2022

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.

DOI: 10.1002/ajmg.a.62703

Year: 2022

Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes

DOI: 10.1016/j.stemcr.2022.01.003

Year: 2022

C10orf99/GPR15L Regulates Proinflammatory Response of Keratinocytes and Barrier Formation of the Skin

DOI: 10.3389/fimmu.2022.825032

Year: 2022

Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

DOI: 10.1038/s41588-022-01053-8

Year: 2022

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

DOI: 10.1056/NEJMoa2033911

Year: 2021

IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts

DOI: 10.1093/rheumatology/keab168

Year: 2021

Heterozygous Missense Variant in EIF6 gene: a novel form of Shwachman‐Diamond Syndrome?

DOI: 10.1002/ajmg.a.62498

Year: 2021

How Can Genetic Counseling Help Families Affected by the Delta F508 Mutation?

What is the future of research in inherited genetic mutations?

What is Hydroxyurea?

What Are the Consequences of Transversions?

What are the Key Techniques in Genetic Research?

What are the Future Directions?

Can Therapies Target Genetic Mutations Caused by Asbestos?

How is Cancer Genomics Studied?

How Does the Delta F508 Mutation Affect the CFTR Protein?

How Do Genes Work?

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