Emmanuelle Souzeau

发表

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2017, Genome Medicine.

A Genetic Locus Accentuates the Effect of Volume Overload on Adverse Left Ventricular Remodeling in Male and Female Rats

B. Llamas, E. Souzeau, C. Deschepper, 2006, Hypertension.

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

D. Mackey, A. Hewitt, E. Souzeau, 2022, medRxiv.

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature

E. Souzeau, J. Craig, C. Barnett, 2022, Molecular vision.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

D. Mackey, A. Hewitt, L. Kearns, 2022, Molecular genetics & genomic medicine.

Pathogenic genetic variants identified in Australian families with paediatric cataract

James T. Elder, Bennet J. McComish, D. Mackey, 2022, BMJ Open Ophthalmology.

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants

D. Mackey, E. Souzeau, J. Craig, 2022, Cornea.

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

K. Koch, E. Souzeau, J. Craig, 2021, Genes.

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

N. Martin, G. Montgomery, J. Beesley, 2018, Nature Genetics.

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

J. Haines, P. Mitchell, L. Pasquale, 2018, Scientific Reports.

Quality of life in children with glaucoma: a qualitative interview study in Australia

E. Souzeau, S. Staffieri, J. Craig, 2022, BMJ Open.

The caregiver experience in childhood glaucoma: An interview study.

E. Souzeau, S. Staffieri, J. Craig, 2022, Ophthalmology. Glaucoma.

Quality of life in adults with childhood glaucoma: An interview study.

E. Souzeau, S. Staffieri, J. Craig, 2021, Ophthalmology. Glaucoma.

Childhood and Early-Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry.

James T. Elder, G. Gole, D. Mackey, 2021, Ophthalmology.

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

Janey L. Wiggs, Paul Mitchell, Jonathan L. Haines, 2014, Nature Genetics.

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

Xiaorong Liu, D. Mackey, A. Hewitt, 2017, The Journal of clinical investigation.

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

E. Souzeau, J. Craig, Ayub Qassim, 2021, Translational vision science & technology.

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration

Daniel Thomson, J. Landers, Ayub Qassim, 2023, BMC Ophthalmology.

Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.

A. Hewitt, J. Craig, R. Casson, 2022, JAMA ophthalmology.

A polygenic risk score predicts intraocular pressure readings outside office hours and early morning spikes as measured by home tonometry.

S. Graham, Angela M Schulz, A. Hewitt, 2020, Ophthalmology. Glaucoma.

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

J. Haines, C. Klaver, P. Mitchell, 2020, Nature Genetics.

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

S. Graham, A. Hewitt, J. Kirwan, 2020, Ophthalmology.

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

D. Mackey, S. Graham, I. Goldberg, 2019, JAMA ophthalmology.

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

D. Mackey, S. Graham, I. Goldberg, 2017, Ophthalmology.

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

Adriana I. Iglesias, A. Hofman, A. Uitterlinden, 2017, Human molecular genetics.

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

Adriana I. Iglesias, M. Pirinen, P. Donnelly, 2014, Nature Communications.

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

Tiger Zhou, Stuart MacGregor, Stuart Graham, 2017, PloS one.

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

M. Brown, D. Mackey, S. Graham, 2017, Investigative ophthalmology & visual science.

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

M. Brown, D. Mackey, S. Graham, 2016, Molecular genetics & genomic medicine.

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

Simon C. Potter, Adriana I. Iglesias, M. Pirinen, 2018, Nature Communications.

Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family

E. Souzeau, J. Craig, K. Burdon, 2013, Human mutation.

Mutational analysis of MIR184 in sporadic keratoconus and myopia.

P. Mitchell, C. Willoughby, R. Mills, 2013, Investigative ophthalmology & visual science.

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

D. Mackey, J. Rait, A. Hewitt, 2019, JAMA ophthalmology.

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

P. Mitchell, I. Constable, S. MacGregor, 2016, Scientific Reports.

PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia

R. Mills, E. Souzeau, J. Craig, 2018, Molecular vision.

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

K. Ormond, H. Rehm, Y. Bombard, 2019, American journal of human genetics.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Xiaorong Liu, S. Maurer-Stroh, D. Mackey, 2016, The Journal of clinical investigation.

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

M. Brown, P. Mitchell, N. Martin, 2011, Nature Genetics.

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO 1 and CDKN 2 BAS 1

M. Brown, P. Mitchell, N. Martin, 2011 .

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

Sarah C. Nelson, U. Thorsteinsdóttir, M. Nöthen, 2017, Nature Genetics.

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

D. Mackey, A. Hewitt, L. Kearns, 2020, Ophthalmology.

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

P. Mitchell, Jie-Jin Wang, D. Mackey, 2016, Investigative ophthalmology & visual science.

Genetic Association at the 9 p 21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

P. Mitchell, Jie-Jin Wang, D. Mackey, 2016 .

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

G. Montgomery, D. Mackey, G. Radford-Smith, 2015, Investigative ophthalmology & visual science.

Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.

D. Mackey, I. Goldberg, A. Hewitt, 2013, Ophthalmology.

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2020, Scientific Reports.

The APOE E4 Allele Is Associated with Faster Rates of Neuroretinal Thinning in a Prospective Cohort Study of Suspect and Early Glaucoma

P. Mitchell, S. Graham, Angela M Schulz, 2022, Ophthalmology science.

Macular Ganglion Cell-Inner Plexiform Layer Loss Precedes Peripapillary Retinal Nerve Fiber Layer Loss in Glaucoma with Lower Intraocular Pressure.

S. Graham, A. Hewitt, E. Souzeau, 2019, Ophthalmology.

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

E. Souzeau, J. Craig, K. Burdon, 2016, BMC Medical Genetics.

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

K. Burdon, Jamie E Craig, Emmanuelle Souzeau, 2015, Clinical genetics.

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

D. Mackey, I. Goldberg, A. Hewitt, 2015, JAMA ophthalmology.

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

S. Maurer-Stroh, R. Maroofian, E. Souzeau, 2020, Investigative ophthalmology & visual science.

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

D. Mackey, J. Rait, A. Hewitt, 2017, European Journal of Human Genetics.

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

E. Souzeau, J. Craig, K. Burdon, 2016, BMC Research Notes.

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

B. Llamas, E. Souzeau, C. Deschepper, 2006, Hypertension.

Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma

Grace E. Lidgerwood, D. Mackey, S. Graham, 2021, bioRxiv.

links primary open-angle glaucoma and age-related macular degeneration

P. Mitchell, I. Constable, Jie-Jin Wang, 2016 .

No Strong Association between the Apolipoprotein E E4 Allele and Glaucoma: A Multicohort Study.

P. Gharahkhani, R. Mills, E. Souzeau, 2023, Ophthalmology science.

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

R. Mills, E. Souzeau, J. Craig, 2022, Investigative ophthalmology & visual science.

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

R. Mills, E. Souzeau, J. Craig, 2018, PloS one.

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

E. Souzeau, J. Craig, J. Ruddle, 2018, Clinical & experimental ophthalmology.