List of works - Chris F. Inglehearn

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

scientific article

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

scientific article published in February 2018

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

scientific article published on 4 October 2015

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

scientific article published on 9 November 2015

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

scientific article published on 06 December 2013

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

scientific article published on 30 October 2008

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

scientific article

Amelogenesis Imperfecta; Genes, Proteins, and Pathways ⬇️

scientific article

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ⬇️

scientific article

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model ⬇️

scientific article published on June 18, 2013

Analysis of candidate genes for macular telangiectasia type 2

scientific article

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

scientific article

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

scientific article

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

scientific article

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

scientific article

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome ⬇️

scientific article

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

scientific article published on 23 February 2017

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

scientific article

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ⬇️

scientific article published on 17 May 2017

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

scientific article

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta ⬇️

scientific article published on 12 July 2016

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

scientific article published on December 2015

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

scientific article published on 3 June 2014

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

scientific article

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

scientific article

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

scientific article

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

scientific article

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

scientific article

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

scientific article published on 19 May 2011

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

scientific article published on 30 April 2009

Matrix metalloproteinases in keratoconus - Too much of a good thing?

scientific article published on 23 March 2019

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan

scientific article published in December 2009

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

scientific article published on 27 September 2011

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

scientific article

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

scientific article

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

scientific article

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa ⬇️

scientific article published on January 1, 2002

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

scientific article

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

scientific article

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

scientific article

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

scientific article

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

scientific article

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

scientific article

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

scientific article published on 20 September 2016

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

scientific article

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

scientific article published on 12 February 2020

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

scientific article published on 7 November 2011

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin ⬇️

scientific article

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome ⬇️

scientific article published on 09 September 2018

Null mutations in LTBP2 cause primary congenital glaucoma

scientific article published on 09 April 2009

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

scientific article

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

scientific article published on 24 March 2019

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

scientific article published in May 2010

Proteomic profiling of the retinal dysplasia and degeneration chick retina. ⬇️

scientific article

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

scientific article

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

scientific article

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

scientific article

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

scientific article published on June 2017

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

scientific article

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

scientific article published on 15 June 2016

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder ⬇️

scientific article published on March 10, 2011

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway ⬇️

scientific article published on 7 April 2015

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress ⬇️

scientific article

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

scientific article

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

scientific article published on 21 February 2015

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta ⬇️

scientific article

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

scientific article

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

scientific article

List of works by Chris F. Inglehearn

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing ⬇️

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta ⬇️

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

Amelogenesis Imperfecta; Genes, Proteins, and Pathways ⬇️

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress ⬇️

An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model ⬇️

Analysis of candidate genes for macular telangiectasia type 2

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy ⬇️

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

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome ⬇️

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta ⬇️

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta ⬇️

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

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Matrix metalloproteinases in keratoconus - Too much of a good thing?

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa ⬇️

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin ⬇️

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome ⬇️

Null mutations in LTBP2 cause primary congenital glaucoma

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Proteomic profiling of the retinal dysplasia and degeneration chick retina. ⬇️

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions ⬇️

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

Spectrum of PEX1 and PEX6 variants in Heimler syndrome ⬇️

The Influence of Lamellar Orientation on Corneal Material Behavior: Biomechanical and Structural Changes in an Avian Corneal Disorder ⬇️

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway ⬇️

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress ⬇️

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta ⬇️

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast