List of works - Elise Héon

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

scientific article

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family ⬇️

scientific article published on December 15, 2011

A small grant funding program to promote innovation at an academic research hospital

scientific article published on October 2015

Adult ovarian retinoblastoma genomic profile distinct from prior childhood eye tumor

scientific article published in August 2011

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

scientific article (publication date: 8 February 2002)

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

scientific article

Assessment of Central Retinal Function in Patients with Advanced Retinitis Pigmentosa

scientific article published on 01 March 2007

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

scientific article published on 28 December 2011

BBS Mutational Analysis: A Strategic Approach ⬇️

scientific article published on 04 April 2011

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

scientific article published on 22 March 2011

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

scientific article

BIGH3 mutation spectrum in corneal dystrophies

scientific article published on 01 April 2002

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

scientific article published in May 2016

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

scientific article published on 6 April 2016

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

scientific article published on 6 January 2017

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

scientific article published in August 2017

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype

scientific article

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

scientific article

CRYBB1 mutation associated with congenital cataract and microcornea

scientific article

Caenorhabditis elegans as a Model Organism for Ciliopathies and Related Forms of Photoreceptor Degeneration ⬇️

scientific article published on January 1, 2012

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations

scientific article published in March 2004

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.

scientific article published in September 2010

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

scientific article

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

scientific article published on 05 August 2020

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations

scientific article published on 14 February 2017

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

scientific article published on September 2004

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

scientific article published on 30 December 2008

Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).

scientific article published on 5 November 2008

Detection of optic nerve disease in retinoblastoma by use of spectral domain optical coherence tomography

scientific article

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

scientific article published on 3 October 2012

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

scientific article

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

scientific article published on 8 September 2009

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

scientific article (publication date: 2002)

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

scientific article published on 12 July 2017

Eight previously unidentified mutations found in the OA1 ocular albinism gene

scientific article published in 2006

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis ⬇️

scientific article published on July 29, 2012

Further genetic heterogeneity for autosomal dominant human sutural cataracts

scientific article published in March 2003

Further support of the role of CYP1B1 in patients with Peters anomaly.

scientific article

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

scientific article

Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes

scientific article

Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations

scientific article

Hey, I just did a new operation!: Introducing innovative procedures and devices within an academic health center

scientific article

High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography

scientific article published in January 2009

Human cone photoreceptor dependence on RPE65 isomerase

scientific article

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

scholarly article

Hypersensitivity to sub-Tenon's topotecan in fibrin adhesive in patients with retinoblastoma

scientific article published on February 2015

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration

scientific article published on 17 July 2018

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

scientific article

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

scientific article

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization

scientific article published on 23 August 2008

Improvement and decline in vision with gene therapy in childhood blindness.

scientific article

In memoriam Maria Musarella

scientific article published on 21 April 2014

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations

scientific article published on 15 February 2013

Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review

scientific article published on 17 March 2016

Jack Crawford Day 2009.

scientific article published in October 2009

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta ⬇️

scientific article published on 5 February 2018

Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old

scientific article

Leukocoria caused by intraocular heterotopic brain tissue.

scientific article

Management and outcome of unilateral retinoblastoma

scientific article

Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child

scientific article published on 03 January 2013

Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for.

scientific article published on 7 October 2004

Multifaceted chemotherapy for trilateral retinoblastoma

scientific article published in March 2011

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

scientific article published on 24 May 2012

Mutational analysis of the OA1 gene in ocular albinism

scientific article (publication date: September 2003)

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

scientific article published on 3 May 2013

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)

scientific article published on 22 March 2016

Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans ⬇️

scientific article (publication date: October 2011)

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

scientific article published on 14 May 2010

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

My child has Leber congenital amaurosis: why is he/she not eligible for gene therapy trials?

scientific article published in December 2009

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

scientific article published in January 2007

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

article

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

scientific article

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations

scientific article

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

scientific article published on 7 October 2014

Ocular manifestations of the Johanson-Blizzard syndrome

scientific article published on 29 August 2009

Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma

scientific article published in August 2003

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

scientific article published in January 2005

Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders

scientific article published on 26 January 2011

Optical Coherence Tomography-Guided Decisions in Retinoblastoma Management

scientific article

Periocular topotecan for intraocular retinoblastoma

scientific article

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram” ⬇️

scientific article published on January 30, 2013

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

scientific article published on December 2014

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

scientific article published on 6 June 2008

Pontocerebellar Hypoplasia Type 1: New Leads for an Earlier Diagnosis ⬇️

scientific article published on March 1, 2003

Predilection of retinoblastoma metastases for the mandible

scientific article

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

scientific article

Prenatal versus Postnatal Screening for Familial Retinoblastoma

scientific article

Prosthetic conformers: a step towards improved rehabilitation of enucleated children

scientific article published on February 2002

Pupillary reflex dilation and skin temperature to assess sensory level during combined general and caudal anesthesia in children

scientific article

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

scientific article

Radiologic surveillance for retinoblastoma metastases unexpectedly showed disseminated toxocariasis in liver, lung, and spinal cord

scientific article published in April 2010

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

scientific article

Reply

Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series

scientific article published on 29 April 2015

Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography

scientific article published on June 2008

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

scientific article

Retinoblastoma CSF metastasis cured by multimodality chemotherapy without radiation

scientific article published in September 2009

Retinoblastoma versus advanced Coats' disease: Is enucleation the answer?

scientific article published on 19 July 2016

Retinoblastoma with central retinal artery thrombosis that mimics extraocular disease

scientific article published in April 2002

Retinoma underlying retinoblastoma revealed after tumor response to 1 cycle of chemotherapy

scientific article published in August 2009

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome

scientific article published on 28 November 2018

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

scientific article

Structural abnormalities of the cornea and lid resulting from collagen V mutations

scientific article

The Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease

article

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration

scientific article published on 01 September 2012

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area

scientific article published in February 2000

The need for standardization of antiretinal antibody detection and measurement

scientific article published on 30 July 2008

The role of MR imaging in investigating isolated pediatric nystagmus

scientific article published on 12 August 2016

Toxocariasis mimicking liver, lung, and spinal cord metastases from retinoblastoma

scientific article published in March 2009

Trilateral retinoblastoma with pituitary-hypothalamic dysfunction

scientific article

Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma

scientific article published on 01 July 2003

Unusual ocular presentation of von Hippel-Lindau disease

scientific article published in October 2005

Using Balance Function to Screen for Vestibular Impairment in Children With Sensorineural Hearing Loss and Cochlear Implants

scientific article published on 25 May 2016

Using RB1 mutations to assess minimal residual disease in metastatic retinoblastoma

scientific article published on 25 June 2010

Utility of molecular testing for related retinal dystrophies

scientific article published on April 2006

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

scientific article

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

scientific article published on 25 October 2016

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

scientific article published on 01 January 2019

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa

scientific article

List of works by Elise Héon

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family ⬇️

A small grant funding program to promote innovation at an academic research hospital

Adult ovarian retinoblastoma genomic profile distinct from prior childhood eye tumor

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

Assessment of Central Retinal Function in Patients with Advanced Retinitis Pigmentosa

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

BBS Mutational Analysis: A Strategic Approach ⬇️

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

BIGH3 mutation spectrum in corneal dystrophies

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

CRYBB1 mutation associated with congenital cataract and microcornea

Caenorhabditis elegans as a Model Organism for Ciliopathies and Related Forms of Photoreceptor Degeneration ⬇️

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).

Detection of optic nerve disease in retinoblastoma by use of spectral domain optical coherence tomography

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis ⬇️

Further genetic heterogeneity for autosomal dominant human sutural cataracts

Further support of the role of CYP1B1 in patients with Peters anomaly.

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes

Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations

Hey, I just did a new operation!: Introducing innovative procedures and devices within an academic health center

High-resolution retinal imaging in young children using a handheld scanner and Fourier-domain optical coherence tomography

Human cone photoreceptor dependence on RPE65 isomerase

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Hypersensitivity to sub-Tenon's topotecan in fibrin adhesive in patients with retinoblastoma

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization

Improvement and decline in vision with gene therapy in childhood blindness.

In memoriam Maria Musarella

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations

Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review

Jack Crawford Day 2009.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta ⬇️

Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old

Leukocoria caused by intraocular heterotopic brain tissue.

Management and outcome of unilateral retinoblastoma

Molecular testing prognostic of low risk in epithelioid uveal melanoma in a child

Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for.

Multifaceted chemotherapy for trilateral retinoblastoma

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

Mutational analysis of the OA1 gene in ocular albinism

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)

Mutations in a Guanylate Cyclase GCY-35/GCY-36 Modify Bardet-Biedl Syndrome–Associated Phenotypes in Caenorhabditis elegans ⬇️

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

My child has Leber congenital amaurosis: why is he/she not eligible for gene therapy trials?

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

New Locus for Autosomal Dominant High Myopia Maps to the Long Arm of Chromosome 17

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium

Ocular manifestations of the Johanson-Blizzard syndrome

Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders