Elfride B. W. De Baere - Genetic Mutations

Author Information

Elfride B. W. De Baere is a distinguished researcher affiliated with the Center for Medical Genetics Ghent at Ghent University and Ghent University Hospital in Ghent, Belgium. Her extensive research primarily focuses on genetic testing techniques, retinal dystrophies, and the genetic mechanisms underlying various ocular conditions.

Research Contributions

Elfride B. W. De Baere has made significant contributions to the field of genetics, particularly in understanding inherited retinal dystrophies and other genetic eye diseases. Her recent studies include exploring the variant spectrum of the CNGA3 gene in achromatopsia patients, dissecting the cis-regulatory mechanisms in North Carolina macular dystrophy, and investigating the genetic landscape of inherited retinal dystrophies in Spain. Additionally, her work on personalized genetic counseling for Stargardt disease and the functional impacts of RNU7-1 mutations in Aicardi-Goutières Syndrome highlights her dedication to advancing genetic understanding and patient care.

Aliases

Elfride B. W. De Baere is also known by several other names in academic publications, including E De Baere, E. De Baere, Elfride De Baere, and Elfride B W De Baere.

Publication and Citation Metrics

Metric	Value
Citation Count	5778
h-index	46
Paper Count	159

Publications:

Genetic testing techniques

DOI: 10.1016/b978-0-12-813944-8.00002-0

Year: 2022

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

DOI: 10.1101/2022.03.08.481329

Year: 2022

Contributors

DOI: 10.1016/b978-0-12-813944-8.09991-1

Year: 2022

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

DOI: 10.1007/s10875-022-01209-5

Year: 2022

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

DOI: 10.1002/humu.24371

Year: 2022

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.

DOI: 10.1016/j.ajhg.2022.01.008

Year: 2022

ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.

DOI: 10.1097/IAE.0000000000003028

Year: 2021

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

DOI: 10.1186/s13023-021-01756-x

Year: 2021

Loss of CEP162 function at the primary cilium delays ciliogenesis and causes retinal ciliopathy in humans

DOI: 10.1101/2021.11.23.469779

Year: 2021

Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

DOI: 10.1038/s41598-021-89275-4

Year: 2021

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How Does Oxford Nanopore Sequencing Detect Genetic Mutations?

What Types of Prenatal Tests Are Available?

What Types of Mutations Are Commonly Observed?

Can Transversions Be Repaired?

What are Driver Mutations and Passenger Mutations?

What are Some Examples of Autosomal Recessive Disorders?

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