List of works - Carmel Toomes

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

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

scientific journal article

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Analysis of candidate genes for macular telangiectasia type 2

scientific article

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

scientific article

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

scientific article published on 15 February 2007

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

scientific article

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

scientific article published in January 2008

Changing the status quo bias

scientific article published on 17 January 2011

Coinheritance of two rare genodermatoses (Papillon-Lefevre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

article

Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’

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

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ⬇️

scientific article published in June 2017

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

article

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

scientific article

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

scientific article published on December 2015

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

scientific article

Familial Exudative Vitreoretinopathy, Autosomal Dominant

scientific article published on 22 September 2011

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

scientific article

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

scientific article published on 19 June 2012

Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer.

scientific article published in January 1999

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

scientific article published on February 2005

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

scientific article published in April 2005

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

scientific article

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

scientific article

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

scientific article published on 10 January 2018

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

scientific article

Identification of microcephalin, a protein implicated in determining the size of the human brain

scientific article

Importance of molecular testing in dominant optic atrophy.

scientific article published on November 2002

Loss of CSMD1 disrupts mammary epithelial morphogenesis

scientific article published on 18 May 2010

Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion ⬇️

scientific article

Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma

scientific article published on 8 August 2009

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

scientific article published on 30 April 2009

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

scientific article (publication date: December 1999)

Mitral E wave propagation as an index of left ventricular diastolic function. I: Its hydrodynamic basis.

scientific article published in July 1998

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

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 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 TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

scientific article

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

scientific article

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

scientific article

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

scientific article

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

Null mutations in LTBP2 cause primary congenital glaucoma

scientific article published on 09 April 2009

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family ⬇️

scientific article published on August 10, 2011

Polymorphisms in OPA1 are associated with normal tension glaucoma.

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

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

scientific article published on 14 May 2012

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

scientific article published on September 2006

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

scientific article

Replication of the recessive STBMS1 locus but with dominant inheritance

scientific article published on 14 February 2009

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, frequency and penetrance of OPA1 mutations in dominant optic atrophy

scientific article (publication date: 15 June 2001)

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2.

scientific article

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 natural history of OPA1-related autosomal dominant optic atrophy

scientific article published on 24 July 2008

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

scientific article

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

scientific article published in March 2004

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

scientific article published on 2 August 2006

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

scientific article published on 2 January 2013

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

scientific article

List of works by Carmel Toomes

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

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Analysis of candidate genes for macular telangiectasia type 2

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

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

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

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

Changing the status quo bias

Coinheritance of two rare genodermatoses (Papillon-Lefevre syndrome and oculocutaneous albinism type 1) in two families: a genetic study

Comment on ‘cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy’

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

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ⬇️

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

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

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

Familial Exudative Vitreoretinopathy, Autosomal Dominant

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

Frequent allelic loss and homozygous deletion in chromosome band 8p23 in oral cancer.

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree

Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree.

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

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

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Identification of microcephalin, a protein implicated in determining the size of the human brain

Importance of molecular testing in dominant optic atrophy.

Loss of CSMD1 disrupts mammary epithelial morphogenesis

Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion ⬇️

Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma

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

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Mitral E wave propagation as an index of left ventricular diastolic function. I: Its hydrodynamic basis.

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

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 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 TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

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

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 ⬇️

Null mutations in LTBP2 cause primary congenital glaucoma

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family ⬇️

Polymorphisms in OPA1 are associated with normal tension glaucoma.

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

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

Replication of the recessive STBMS1 locus but with dominant inheritance

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, frequency and penetrance of OPA1 mutations in dominant optic atrophy

The Meckel-Gruber Syndrome protein TMEM67 (meckelin) regulates basal body planar polarization and non-canonical Wnt signalling via Wnt5a and ROR2.

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

The natural history of OPA1-related autosomal dominant optic atrophy

The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis.

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

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