E. De Baere

发表

The transcription factor FOXL2 in ovarian function and dysfunction.

R. Veitia, M. Fellous, E. De Baere, 2010, Folia histochemica et cytobiologica.

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

C. Bonroy, S. Rosenzweig, E. De Baere, 2017, The Journal of allergy and clinical immunology.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

F. Riemslag, A. D. den Hollander, S. Bolz, 2012, American journal of human genetics.

IQCB1 mutations in patients with leber congenital amaurosis.

S. Jacobson, A. D. den Hollander, E. Zrenner, 2011, Investigative ophthalmology & visual science.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

C. Klaver, F. Riemslag, A. D. den Hollander, 2013, Ophthalmology.

Functional characterization of a novel non-coding mutation “Ghent +49A > G” in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome

E. De Baere, J. Couso, Mayka Sánchez, 2017, Scientific Reports.

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

B. Lambrecht, J. Casanova, S. Savvides, 2018, Front. Immunol..

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

Y. Sauve, O. Lehmann, E. De Baere, 2013, Human molecular genetics.

Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation

E. De Baere, M. Lamkanfi, D. Bogaert, 2016, Proceedings of the National Academy of Sciences.

CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up

E. De Baere, J. de Zaeytijd, C. van Cauwenbergh, 2021, British Journal of Ophthalmology.

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

N. Schalij-Delfos, E. De Baere, A. Bergen, 2019, Translational vision science & technology.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

C. Klaver, N. Schalij-Delfos, G. Dagnelie, 2018, Investigative ophthalmology & visual science.

Colour Vision in Stargardt Disease

E. De Baere, J. de Zaeytijd, R. Buyl, 2015, Ophthalmic Research.

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

F. Cremers, C. Hoyng, E. De Baere, 2016, Ophthalmology.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

P. Charbel Issa, G. Holder, V. Plagnol, 2015, Investigative ophthalmology & visual science.

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study

E. De Baere, Tania Moerenhout, I. Devisch, 2020, BMC Medical Ethics.

Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.

J. Kaufman, T. Fiers, D. Vanderschueren, 2015, Bone.

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

L. Looijenga, M. Kempers, C. V. van Ravenswaaij-Arts, 2020, Journal of Medical Genetics.

Antisense Oligonucleotide-Based Downregulation of the G56R Pathogenic Variant Causing NR2E3-Associated Autosomal Dominant Retinitis Pigmentosa

E. De Baere, F. Coppieters, S. Lefever, 2019, Genes.

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

B. Menten, V. Iotova, E. De Baere, 2014, Orphanet Journal of Rare Diseases.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

I. Thiffault, Xiang-Jiao Yang, B. Solomon, 2020, Science Advances.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

J. Sahel, M. Polak, N. Boddaert, 2020, American journal of human genetics.

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

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Colour Vision in Stargardt Disease

E. De Baere, J. de Zaeytijd, R. Buyl, 2011, Ophthalmic Research.

Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

B. Menten, E. De Baere, C. Christophe, 2011, Molecular vision.

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate

E. De Baere, I. Devisch, H. Mertes, 2018, European Journal of Human Genetics.

Recommendations for whole genome sequencing in diagnostics for rare diseases

N. de Leeuw, J. Belmont, J. Clayton-Smith, 2022, European Journal of Human Genetics.

Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study

E. De Baere, K. Tilleman, L. Tack, 2022, EBioMedicine.

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

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, bioRxiv.

Genotyping microarray for CSNB-associated genes.

J. Sahel, B. Lorenz, E. Zrenner, 2009, Investigative ophthalmology & visual science.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

B. Lambrecht, S. Rosenzweig, E. De Baere, 2017, Scientific Reports.

New variants and in silico analyses in GRK1 associated Oguchi disease

Rachel L. Taylor, C. Rivolta, D. Donnelly, 2020, Human mutation.

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

Rachel L. Taylor, C. Rivolta, D. Donnelly, 2020, bioRxiv.

Correction: Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Annette Lee, P. Gregersen, R. Ophoff, 2011, PLoS Genetics.

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

P. Verloo, Y. Crow, B. Ogunjimi, 2022, Journal of Clinical Immunology.

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

E. De Baere, A. Haghighi, H. Haghighi-Kakhki, 2012, Molecular vision.

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

M. Nowaczyk, E. De Baere, H. Verdin, 2012, Clinical dysmorphology.

Structure, evolution and expression of the FOXL2 transcription unit

R. Veitia, M. Fellous, E. De Baere, 2003, Cytogenetic and Genome Research.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

During later youth, she suffered from psychological problems such as panic attacks and social phobia. After finishing hotel management

E. De Baere, G. T’Sjoen, G. Heylens, 2022 .

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

B. Jurklies, E. De Baere, B. Wissinger, 2014, Molecular genetics & genomic medicine.

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

E. De Baere, R. De Rycke, F. Coppieters, 2019, Clinical genetics.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

C. Rivolta, J. Tena, J. Gómez-Skarmeta, 2022, American journal of human genetics.

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

R. Veitia, A. De Paepe, D. Beysen, 2008, Human molecular genetics.

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

B. Menten, Robrecht Cannoodt, E. De Baere, 2016, Genetics in Medicine.

Identification of novel genetic markers associated with the clinical phenotypes of systemic sclerosis through a genome wide association strategy

Annette Lee, P. Gregersen, R. Ophoff, 2010, Journal of Translational Medicine.

GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

B. Lambrecht, P. de Bleser, E. De Baere, 2022, Science Immunology.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2022, bioRxiv.