E. Baere

发表

The transcription factor FOXL 2 in ovarian function and dysfunction

R. Veitia, M. Fellous, E. Baere, 2009 .

HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle

Gabriele Gillessen-Kaesbach, Ryuichiro Nakato, Katsuhiko Shirahige, 2012, Nature.

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

Kathleen A. Marshall, G. Ying, E. Stone, 2009, The Lancet.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Identification of copy number variants associated with BPES-like phenotypes

E. Bakker, C. Ruivenkamp, R. Hennekam, 2008, Human Genetics.

Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal Cis-Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic Variation

M. Greenberg, Rui Chen, D. Harmin, 2018, bioRxiv.

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

B. Menten, J. Gómez-Skarmeta, S. Janssens, 2015, Scientific Reports.

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE 65 Mutations

E. Baere, A. Bergen, C. Boon, 2019 .

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

I. Casteels, E. Baere, F. Coppieters, 2014, Genetics in Medicine.

Year : 2009 Genotyping Microarray for CSNB-Associated Genes

J. Sahel, B. Lorenz, E. Zrenner, 2010 .

Structural and numerical changes of chromosome X in patients with esophageal atresia

D. Tibboel, E. Baere, B. Eussen, 2014, European Journal of Human Genetics.

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

T. Langmann, M. Karlstetter, E. Baere, 2014, Genetics in Medicine.

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction

R. Veitia, D. Beysen, E. Baere, 2006, Human Genetics.

Genetic testing and genotype–phenotype correlations

L. Messiaen, E. Baere, 2005 .

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

J. Vandesompele, J. Hellemans, E. Baere, 2015, Human mutation.

Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function

E. Baere, F. Coppieters, M. Hawlina, 2012, Documenta Ophthalmologica.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Forkhead Transcription Factors in Genetic Disease

E. Baere, M. Cools, H. Verdin, 2013 .

Phenotype of RDH12-related Early-Onset Retinal Dystrophy

E. Baere, S. Walraedt, F. Coppieters, 2011 .

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

S. Seneca, P. Marynen, E. Baere, 2014, Human Genetics.

Clinical utility gene card for: Axenfeld–Rieger syndrome

Z. Tümer, E. Baere, B. Wissinger, 2011, European Journal of Human Genetics.

Molecular analysis in a large cohort of patients with anterior segment malformations: expanding the spectrum of FOXC1/PITX2 mutations and copy number changes

B. Menten, I. Casteels, R. Oldenburg, 2010 .

BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

B. J. Klevering, E. Zrenner, D. Sharon, 2012 .

University of Groningen Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy Gorlova,

Rajan, Arnett, Annette Lee, 2011 .

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2003 .

Molecular genetics of common variable immunodeficiency

E. Baere, D. Bogaert, F. Haerynck, 2017 .

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

Annette Lee, P. Gregersen, R. Ophoff, 2010, Nature Genetics.

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

J. Vandesompele, J. Hellemans, F. Pattyn, 2012, Genetics in Medicine.

HIGH-RESOLUTION OPTICAL COHERENCE TOMOGRAPHY, AUTOFLUORESCENCE, AND INFRARED REFLECTANCE IMAGING IN SJÖGREN RETICULAR DYSTROPHY

S. Brodie, E. Baere, F. Coppieters, 2013, Retina.

Identification of intellectual disability genes in female patients with skewed X-inactivation

S. Seneca, P. Marynen, K. Devriendt, 2015 .

PVI-30 Comparison of Murex anti-Delta (Total) and ETI-AB-DELTAK-2 ELISAs for the detection of total antibodies against hepatitis D virus

E. Baere, M. Delforge, E. Padalko, 2009 .

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

E. Baere, Periasamy Sundaresan, G. Neethirajan, 2007, Journal of Genetics.

Blepharophimosis, Ptosis, and Epicanthus Inversus

E. Baere, H. Verdin, 2015 .

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of clinical immunology.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

T. M. Phan, C. Klaver, A. D. den Hollander, 2012, Ophthalmology.

Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.

Y. Fukushima, F. Speleman, A. De Paepe, 1999, Genomics.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

C. Klaver, T. Strom, S. Nabuurs, 2009, American journal of human genetics.

Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus.

E. Baere, 2014 .

IQCB1 mutations in patients with leber congenital amaurosis.

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

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

Y. Fukushima, A. Palotie, A. De Paepe, 2000, Genomics.

Evolution and expression of FOXL2

R. Veitia, L. Messiaen, M. Fellous, 2002, Journal of medical genetics.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

Assignment1 of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25→q26.1 by in situ hybridization

F. Speleman, A. De Paepe, L. Messiaen, 1998, Cytogenetic and Genome Research.

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.

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)

B. Benayoun, R. Veitia, A. Georges, 2010, PloS one.

FOXL2 mutation screening in a large panel of POF patients and XX males

R. Veitia, L. Messiaen, M. Fellous, 2002, Journal of medical genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease

F. Cremers, E. Baere, M. De Bruyne, 2023, medRxiv.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

J. Casanova, C. Picard, C. Deswarte, 2018, Journal of Clinical Immunology.

Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci

E. Baere, F. Coppieters, A. Willaert, 2023, medRxiv.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

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

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

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

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

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

A. Shelling, W. Reardon, R. Veitia, 2010, Human mutation.

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

J. Lupski, B. Menten, P. Lapunzina, 2011 .