List of works - Emmanuelle Souzeau

A genetic locus accentuates the effect of volume overload on adverse left ventricular remodeling in male and female rats

scientific article published on 12 December 2005

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

scientific article

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

scientific article published in August 2015

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity

scientific article published on 07 January 2020

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

scientific article published on 15 February 2018

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

scientific article published on 06 June 2016

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

scientific article published on 6 November 2017

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.

scientific article published on 31 May 2016

Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment

scientific article published in August 2012

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

scientific article published in Nature Communications

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

scientific article published on 21 September 2019

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

scientific article published on 07 January 2020

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

scientific article

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma ⬇️

scientific article

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

scientific article published on March 2017

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

scientific article

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

scientific article published on 21 December 2017

Dietary isoflavones during pregnancy and lactation provide cardioprotection to offspring rats in adulthood

scientific article

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

scientific article published on 9 February 2016

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants

scientific article published on 24 November 2020

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

scientific article published in June 2016

Genetic Determinants of Systolic and Pulse Pressure in an Intercross Between Normotensive Inbred Rats

article

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

scientific article

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

article

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

scientific article published on 27 July 2018

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

scientific article

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

scientific article published on 01 November 2017

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

scientific article published on 24 August 2017

Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

scientific article published on 28 February 2013

Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma

article

Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.

scientific article published on 17 January 2013

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation

scientific article published on 02 January 2019

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

scientific article

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

scientific article published on 20 January 2020

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

scientific article

Mutational analysis of MIR184 in sporadic keratoconus and myopia

scientific article published on 5 August 2013

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

article

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

scientific article published on 16 December 2016

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

scientific article published on 10 January 2017

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

scientific article

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

scientific article published on July 2015

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

scientific article published on 8 March 2017

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

scientific article published on 9 January 2014

Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma

scientific article published on 28 January 2015

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

scientific article published on 28 June 2019

RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome

scientific article published on 01 March 2022

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

scientific article published on 03 October 2016

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

scientific article published in December 2017

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

scientific article

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

scientific article published on 11 February 2016

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

scientific article published on 29 May 2018

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

scientific article published on 23 August 2017

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

scientific article published on 01 April 2019

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

scientific article published on 12 February 2020

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

scientific article

List of works by Emmanuelle Souzeau

A genetic locus accentuates the effect of volume overload on adverse left ventricular remodeling in male and female rats

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.

Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma ⬇️

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

Dietary isoflavones during pregnancy and lactation provide cardioprotection to offspring rats in adulthood

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

Genetic Determinants of Systolic and Pulse Pressure in an Intercross Between Normotensive Inbred Rats

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma

Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

Mutational analysis of MIR184 in sporadic keratoconus and myopia

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.