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.
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.
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.
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.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Albert M. Maguire;Albert M. Maguire;Katherine A. High;Katherine A. High;Alberto Auricchio;J. Fraser Wright;J. Fraser Wright.
The Lancet (2009)
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
Matthew A. Deardorff;Masashige Bando;Ryuichiro Nakato;Erwan Watrin.
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Timothy R.D.J. Radstake;Olga Y Gorlova;Blanca Rueda;Jose Ezequiel Martin.
Nature Genetics (2010)
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Frauke Coppieters;Steve Lefever;Bart P. Leroy;Elfride De Baere.
Human Mutation (2010)
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
Elfride De Baere;Michael J. Dixon;Kent W. Small;Ethylin W. Jabs.
Human Molecular Genetics (2001)
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
Elfride De Baere;Diane Beysen;Christine Oley;Birgit Lorenz.
American Journal of Human Genetics (2003)
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier.
American Journal of Human Genetics (2009)
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Delfien J A Bogaert;Melissa Dullaers;Bart N Lambrecht;Karim Y Vermaelen.
Journal of Medical Genetics (2016)
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy
Olga Gorlova;Jose Ezequiel Martin;Blanca Rueda;Bobby P C Koeleman.
PLOS Genetics (2011)
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Alberta A.H.J. Thiadens;Alberta A.H.J. Thiadens;Anneke I. den Hollander;Anneke I. den Hollander;Susanne Roosing;Sander B. Nabuurs.
American Journal of Human Genetics (2009)
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