Emmanuelle Szenker-ravi - Genetic Mutations

Author Information

Emmanuelle Szenker-Ravi is affiliated with the Laboratory of Human Genetics and Therapeutics at the Genome Institute of Singapore (GIS), A*STAR, Singapore. Her research primarily focuses on genetics, particularly in the areas of left-right asymmetry, Wnt secretion, and R-spondin signaling in humans and other vertebrates.

Research Contributions

Emmanuelle Szenker-Ravi has made significant contributions to the field of genetics through her research on genetic modules essential for assigning left-right asymmetry, Wnt secretion, and R-spondin signaling. Her work has implications in understanding multiorgan conditions, lung development, nephron progenitors, and developmental epileptic encephalopathy. Notable papers include discoveries on the genetic basis of left-right asymmetry, the role of R-spondin in renal stem cells, and the impact of GLI3 variants.

Aliases

Emmanuelle Szenker-Ravi is also known as E. Szenker-Ravi and E. Szenker-ravi.

Publication and Citation Metrics

Metric	Value
Total Citations	245
H-index	8
Total Papers	16

Publications:

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

R-SPONDIN2+ Mesenchymal Cells Form the Bud Tip Progenitor Niche During Human Lung Development

DOI: 10.1101/2021.04.05.438484

Year: 2021

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

DOI: 10.1038/s41588-021-00970-4

Year: 2021

Author response: R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors

DOI: 10.7554/elife.53895.sa2

Year: 2020

R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors

DOI: 10.7554/eLife.53895

Year: 2020

A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote

DOI: 10.1111/cge.13730

Year: 2020

Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

DOI: 10.1002/humu.24132

Year: 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

DOI: 10.1038/s41467-020-14360-7

Year: 2020

Paracrine and autocrine R-spondin signalling is essential for the maintenance and differentiation of renal stem cells

DOI: 10.1101/859959

Year: 2019

How Does Hydroxyurea Affect Genetic Mutations?

How Are Genetic Mutations Mapped in Phylogenetic Trees?

How Does Genetic Testing Inform Cancer Treatment?

What is Cystic Fibrosis?

How Does Gene Amplification Occur?

How do ZFNs function?

How Does UV Radiation Cause Genetic Mutations?

What is Sickle Cell Disease?

Which Genes Are Affected by Asbestos-Induced Mutations?

Why are Induced Mutations Important in Research?

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