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Elfride De Baere

Elfride De Baere

D-Index & Metrics

Genetics

D-Index
60
Citations
12643
World Ranking
3161
National Ranking
48

Overview

Elfride De Baere is affiliated with Ghent University in Belgium and has contributed extensively to the fields of biochemistry, genetics, molecular biology, and medicine. Their research primarily focuses on molecular biology and ophthalmology, with significant work also in genetics, cell biology, and immunology. The scientist's investigations address topics such as retinal development and disorders, retinal diseases and treatments, genomics and rare diseases, RNA regulation and disease, ocular disorders and treatments, cellular transport and secretion, and CRISPR and genetic engineering.

De Baere has published numerous papers in several respected venues. Frequent publication outlets include bioRxiv (Cold Spring Harbor Laboratory), Ophthalmic Genetics, Scientific Reports, The American Journal of Human Genetics, and Genetics in Medicine.

Some of the recent notable publications by De Baere include:

  • Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications, 2021, Scientific Reports
  • Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics, 2020, Genetics in Medicine
  • Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease, 2020, Proceedings of the National Academy of Sciences
  • Recommendations for whole genome sequencing in diagnostics for rare diseases, 2022, European Journal of Human Genetics
  • Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer, 2020, Science Advances

De Baere frequently collaborates with several researchers in their field. Prominent coauthors include Bart P. Leroy, Miriam Bauwens, Julie De Zaeytijd, Marieke De Bruyne, and Carlo Rivolta.

The research topics covered by De Baere span various aspects of retinal biology and genetic medicine, focusing considerably on understanding the molecular and genetic bases of retinal conditions, and exploring new therapeutic directions.

Main research topics include:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Genomics and Rare Diseases
  • RNA regulation and disease
  • Ocular Disorders and Treatments
  • Cellular transport and secretion
  • CRISPR and Genetic Engineering

The scientist's work reflects a multidisciplinary approach integrating genomics, transcriptomics, and molecular biology to address challenges in rare diseases and ophthalmic genetics.

Best Publications

  • 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

  • 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

  • CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

    Frauke Coppieters;Steve Lefever;Bart P. Leroy;Elfride De Baere

  • 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

  • Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

    Delfien J A Bogaert;Melissa Dullaers;Bart N Lambrecht;Karim Y Vermaelen

  • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

    Elfride De Baere;Diane Beysen;Christine Oley;Birgit Lorenz

  • TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

    Isabelle Audo;Susanne Kohl;Bart P. Leroy;Francis L. Munier

  • 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

  • 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

  • Gender Identity Disorder in Twins: A Review of the Case Report Literature

    Gunter Heylens;Griet De Cuypere;Kenneth J. Zucker;Cleo Schelfaut

  • Familial Mediterranean Fever Mutations Lift the Obligatory Requirement for Microtubules in Pyrin Inflammasome Activation

    Hanne Van Gorp;Pedro Henrique Viana Saavedra;Nathalia Moraes de Vasconcelos;Nina Van Opdenbosch

  • A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

    Susanne S. Kohl;Frauke Coppieters;Françoise Meire;Simone S. Schaich

  • Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

    Riccardo Sangermano;Alejandro Garanto;Mubeen Khan;Esmee H. Runhart

  • Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Frauke Coppieters;Ingele Casteels;Françoise Meire;Sarah De Jaegere

  • ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

    Miriam Bauwens;Alejandro Garanto;Riccardo Sangermano;Sarah Naessens

  • Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

    Peter M. Krawitz;Peter M. Krawitz;Yoshiko Murakami;Jochen Hecht;Jochen Hecht;Ulrike Krüger

  • FOXL2 mutations and genomic rearrangements in BPES.

    Diane Beysen;Anne De Paepe;Elfride De Baere

  • Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

    Isabelle Audo;Kinga Bujakowska;Kinga Bujakowska;Kinga Bujakowska;Elise Orhan;Elise Orhan;Elise Orhan;Charlotte M. Poloschek

  • Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy

    Alberta A.H.J. Thiadens;Alberta A.H.J. Thiadens;T. My Lan Phan;Renate C. Zekveld-Vroon;Bart P. Leroy

Frequent Co-Authors

Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Susanne Kohl
Susanne Kohl University of Tübingen
Andrew R. Webster
Andrew R. Webster University College London
Rob W.J. Collin
Rob W.J. Collin Radboud University
Carel B. Hoyng
Carel B. Hoyng Radboud University
Bernd Wissinger
Bernd Wissinger University of Tübingen
Filomeen Haerynck
Filomeen Haerynck Ghent University
Björn Menten
Björn Menten Ghent University Hospital
Reiner A. Veitia
Reiner A. Veitia Université Paris Cité
Robert K. Koenekoop
Robert K. Koenekoop McGill University Health Centre

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