List of works - Elfride De Baere

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

scientific article published on November 2015

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

scientific article published on 21 April 2016

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

scientific article

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

scientific article

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

scientific article published on 18 September 2017

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family

scientific article (publication date: May 2008)

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

scientific article published on 7 November 2006

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

scientific article published on 23 January 2019

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

scientific article

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

scientific article published in January 2015

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

scientific article published on 10 May 2019

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbachâ Rott syndrome

scientific article published on 01 December 2009

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

scientific article published on 18 February 2016

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

scientific article

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

scientific article published on 26 October 2017

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

scientific article

Blepharophimosis-ptosis-epicanthus inversus syndrome

scientific article published on 01 June 2011

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

scientific article published on October 2010

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

scientific article published on 10 August 2017

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy ⬇️

scientific article published on January 20, 2012

Clinical utility gene card for: Axenfeld-Rieger syndrome.

scientific article published on 13 October 2010

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

scientific article published on 2 September 2014

Colour Vision in Stargardt Disease

scientific article

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

scientific article published on January 9, 2013

Correction of the Lower Eyelid Malpositioning in the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome ⬇️

scientific article published on September 1, 2011

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

scientific article published on 25 August 2011

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

scientific article

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

scientific article published on 19 July 2014

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

scientific article published on 24 June 2016

Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence

scientific article published in August 2014

Development of a genotyping microarray for Usher syndrome

scientific article published on 08 September 2006

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

scientific article published on December 2015

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

scientific article

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

scientific article published on 14 August 2014

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

scientific article

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

scientific article published on 19 June 2012

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

scientific article published on 14 December 2014

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

scientific article

FOXL2 impairment in human disease

scientific article

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

scientific article published on 01 August 2007

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

scientific article published on 09 October 2009

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

scientific article

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

scientific article published on March 2015

Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman.

scientific article

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

scientific article published on 21 December 2017

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

scientific article

Gender identity disorder in twins: a review of the case report literature

scientific article published on 06 December 2011

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

scientific article published on June 2016

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

scientific article

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

scientific article

Genotyping microarray for CSNB-associated genes.

scientific article

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

scientific article

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

scientific article published on 8 September 2014

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

scientific article published on 28 August 2015

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

scientific article

IQCB1 mutations in patients with leber congenital amaurosis.

scientific article

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

scientific article

Identification of copy number variants associated with BPES-like phenotypes

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

scientific article

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

scientific article published on 13 March 2014

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

scientific article

Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

scientific article published in August 2011

Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination.

scientific article published in December 2011

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

scientific article

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

article

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

scientific article published on 27 July 2017

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

scientific article published on 26 January 2012

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

scientific article published on 15 March 2013

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

scientific article published on January 26, 2012

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

scientific article published on 27 March 2008

Mother and daughter became father and son: a case report.

scientific article published on 27 January 2015

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

scientific article published on 21 December 2015

Mutations in IMPG1 cause vitelliform macular dystrophies.

scientific article published on 29 August 2013

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

scientific article

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

scientific article

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

scientific journal article

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

scientific article

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.

scientific article published on 12 February 2015

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

scientific article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

scientific article

Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination.

scientific article published on 6 August 2015

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

scientific article

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations

scientific article

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

scientific article

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

scientific article

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

scientific article

Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203

scientific article published on 01 November 2009

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

scientific article

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

scientific article

Submicroscopic deletions at 13q32.1 cause congenital microcoria

scientific article

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.

scientific article

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

scientific article

The human FOXL2 mutation database

scientific article

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

scientific article published on 28 January 2020

The transcription factor FOXL2 in ovarian function and dysfunction.

scientific article published on January 2009

Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

scientific article

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

scientific article

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

scientific article

List of works by Elfride De Baere

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

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

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

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

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family

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

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

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

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

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

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbachâ Rott syndrome

Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

Blepharophimosis-ptosis-epicanthus inversus syndrome

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

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Childhood-Onset Autosomal Recessive Bestrophinopathy

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy ⬇️

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Colour Vision in Stargardt Disease

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

Correction of the Lower Eyelid Malpositioning in the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome ⬇️

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

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

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

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

Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence

Development of a genotyping microarray for Usher syndrome

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

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

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

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

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

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

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

FOXL2 impairment in human disease

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

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

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

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman.

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

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).

Gender identity disorder in twins: a review of the case report literature

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

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

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

Genotyping microarray for CSNB-associated genes.

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

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

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.

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

IQCB1 mutations in patients with leber congenital amaurosis.

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Identification of copy number variants associated with BPES-like phenotypes

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

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

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

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

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

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

Mother and daughter became father and son: a case report.

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Mutations in IMPG1 cause vitelliform macular dystrophies.

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

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

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