List of works - L Ingeborgh van den Born

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 Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

scientific article

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

scientific article published on May 3, 2012

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

scientific article

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

scientific article

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

scientific article

Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of injections every 4 weeks, 6 weeks and 8 weeks

scientific article published on 15 June 2013

CRB1 mutation spectrum in inherited retinal dystrophies

scientific article

Clinical course of cone dystrophy caused by mutations in the RPGR gene

scientific article

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

scientific article published on 15 January 2010

Development of refractive errors - what can we learn from inherited retinal dystrophies?

scientific article

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

scientific article

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

scientific article

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

scientific article

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

scientific article

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

scientific article

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

scientific article published on 06 April 2011

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

scientific article

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

scientific article

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

scientific article

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

scientific article published in December 2007

Long-term effect of gene therapy on Leber's congenital amaurosis

scientific article published on 4 May 2015

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

scientific article

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

scientific article

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

scientific article published on 25 April 2017

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

scientific article published on 31 August 2007

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

scientific article published in November 2016

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

scientific article

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

scientific article

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

scientific article published on 13 September 2014

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

scientific article

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

scientific article published in October 2010

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

scientific article published on 29 September 2013

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

scientific article

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

scientific article

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

scientific article published on 7 April 2010

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290 ⬇️

scientific article published on February 10, 2012

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

scientific article

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

scientific article published on 23 June 2010

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

scientific article

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

scientific article

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

scientific article published on November 2015

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

scientific article (publication date: November 2014)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

scientific article published on 28 April 2015

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 Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

scientific article

List of works by L Ingeborgh van den Born

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

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of injections every 4 weeks, 6 weeks and 8 weeks

CRB1 mutation spectrum in inherited retinal dystrophies

Clinical course of cone dystrophy caused by mutations in the RPGR gene

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

Development of refractive errors - what can we learn from inherited retinal dystrophies?

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

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

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

Long-term effect of gene therapy on Leber's congenital amaurosis

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

Next Generation Genetic Testing for Retinitis Pigmentosa

Next-generation genetic testing for retinitis pigmentosa

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290 ⬇️

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

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)

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

Spectral sensitivity measurements reveal partial success in restoring missing rod function with gene therapy

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

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

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.