What is she best known for?
The fields of study she is best known for:
Her primary areas of investigation include Genetics, Mutation, Missense mutation, Retinitis pigmentosa and Genetic heterogeneity.
Her work in Genotype, Frameshift mutation, Nonsense mutation, Disease gene identification and Forkhead box L2 are all subfields of Genetics research.
Her Mutation study introduces a deeper knowledge of Gene.
Her Missense mutation research integrates issues from Genetic testing, Congenital stationary night blindness and Bioinformatics.
Her Retinitis pigmentosa study combines topics from a wide range of disciplines, such as Retinal degeneration, Heterozygote advantage, Proband and Zinc finger.
Her work in Genetic heterogeneity addresses subjects such as Joubert syndrome, which are connected to disciplines such as Ciliopathies.
Her most cited work include:
- Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial (654 citations)
- HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle (383 citations)
- Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus (304 citations)
What are the main themes of her work throughout her whole career to date?
The scientist’s investigation covers issues in Genetics, Gene, Retinitis pigmentosa, Mutation and Missense mutation.
Her studies in Exome sequencing, Phenotype, Locus, Mutation and Disease gene identification are all subfields of Genetics research.
Her study on Gene is mostly dedicated to connecting different topics, such as Retinal.
Her research integrates issues of Retinal degeneration, Dystrophy and Visual acuity in her study of Retinitis pigmentosa.
The various areas that Elfride De Baere examines in her Mutation study include Molecular biology, Forkhead box L2 and Blepharophimosis.
Her study in Missense mutation is interdisciplinary in nature, drawing from both Haplotype and Frameshift mutation.
She most often published in these fields:
- Genetics (59.85%)
- Gene (19.70%)
- Retinitis pigmentosa (13.64%)
What were the highlights of her more recent work (between 2017-2021)?
- Genetics (59.85%)
- Gene (19.70%)
- Retinal (8.71%)
In recent papers she was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Gene, Retinal, Phenotype and Exome sequencing.
Her research related to Missense mutation, Stargardt disease, Allele, Exome and Retinitis pigmentosa might be considered part of Genetics.
In her study, Usher syndrome is strongly linked to Haplotype, which falls under the umbrella field of Missense mutation.
Her work deals with themes such as Visual acuity and Macular dystrophy, which intersect with Retinitis pigmentosa.
Her work is dedicated to discovering how Retinal, Disease are connected with CRISPR, Xenopus and Cell biology and other disciplines.
Her studies deal with areas such as Transcription factor and Gene expression as well as Phenotype.
Between 2017 and 2021, her most popular works were:
- Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. (62 citations)
- ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants (45 citations)
- Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics (23 citations)
In her most recent research, the most cited papers focused on:
Genetics, Gene, Retinitis pigmentosa, Phenotype and Exome sequencing are her primary areas of study.
Her study in Genetics focuses on Allele, Stargardt disease, Exon, Missing heritability problem and Copy-number variation.
Her studies in Retinitis pigmentosa integrate themes in fields like Dystrophy, Visual acuity, Retrospective cohort study, Pedigree chart and Fundus.
Her biological study spans a wide range of topics, including Medical education and Medical genetics.
Her work investigates the relationship between RNA splicing and topics such as Achromatopsia that intersect with problems in Mutation.
Elfride De Baere studies Missense mutation which is a part of Mutation.
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