E. Souzeau

发表

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.

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.

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

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

Nature Genetics Advance Online Publication

Yara T. E. Lechanteur, Ivana K. Kim, Gabriëlle H S Buitendijk, 2022 .

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

M. Coote, D. Mackey, S. Graham, 2012, Clinical & experimental ophthalmology.

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.

Genetics Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG 2 as a Candidate Gene for Age-Related Macular Degeneration

Caroline, Craig, Ahn, 2019 .

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

L. Kearns, E. Souzeau, J. Craig, 2012, Molecular vision.

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.

Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants

D. Mackey, A. Hewitt, L. Kearns, 2018, bioRxiv.

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

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

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

E. Souzeau, J. Craig, O. Siggs, 2019, Ophthalmic genetics.

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

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

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.

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

E. Souzeau, J. Craig, C. Barnett, 2018, Molecular vision.

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

M. Pirinen, P. Donnelly, C. Spencer, 2019, Nature Communications.

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

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

Pathogenic genetic variants identified in Australian families with paediatric cataract

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

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

E. Souzeau, J. Craig, J. Ruddle, 2019, Molecular genetics & genomic medicine.

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

D. MacArthur, M. Coote, L. Kearns, 2020, Clinical genetics.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

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

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

D. Mackey, A. Hewitt, E. Souzeau, 2017, G3: Genes, Genomes, Genetics.

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

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

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

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

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 (Rochester, Minn.).

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

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

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

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

Mutational analysis of MIR184 in sporadic keratoconus and myopia.

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

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

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

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

L. Pérez-Jurado, E. Souzeau, J. Craig, 2020, American journal of medical genetics. Part A.

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

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

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.

A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type

R. Mills, E. Souzeau, J. Craig, 2021, Human mutation.

Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature

E. Souzeau, J. Craig, Aanchal Gupta, 2020, Ophthalmic genetics.

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.

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, 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.

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

M. Brown, R. Mills, E. Souzeau, 2017, Investigative ophthalmology & visual science.

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

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

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.

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

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

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

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

Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

E. Souzeau, J. Craig, Ayub Qassim, 2021, Translational Vision Science & Technology.

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

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

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.

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.

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

A. Hewitt, E. Souzeau, J. Craig, 2014, JAMA 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.

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.

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.

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

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

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.

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

David A. Mackey, Alex W. Hewitt, Kathryn P. Burdon, 2016, Translational vision science & technology.

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

E. Souzeau, J. Craig, K. Burdon, 2014, Genetics in Medicine.

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.

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

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

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

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

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

D. Mackey, L. Kearns, E. Souzeau, 2015, Molecular vision.

Occurrence of CYP 1 B 1 Mutations in Juvenile Open-Angle GlaucomaWith Advanced Visual Field Loss

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

CYP 1 B 1 copy number variation is not a major contributor to primary congenital glaucoma

D. Mackey, L. Kearns, E. Souzeau, 2015 .

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

E. Souzeau, J. Craig, J. Breen, 2019, Molecular vision.

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

E. Souzeau, C. Deschepper, S. Picard, 2005, American journal of physiology. Heart and circulatory physiology.

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

A. Hewitt, R. Mills, E. Souzeau, 2017, PloS one.

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.

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 .

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.

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 .

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.

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

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

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.

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.

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

P. Mitchell, Jie-Jin Wang, S. Graham, 2018, Ophthalmic genetics.

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

E. Souzeau, J. Craig, K. Burdon, 2016, European Journal of Human Genetics.

The caregiver experience in childhood glaucoma: An interview study.

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

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.

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

E. Souzeau, J. Craig, J. Ruddle, 2018, Clinical and Experimental 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.

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

D. Mackey, S. Graham, A. Hewitt, 2015, American journal of ophthalmology.

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

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

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.

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

Kathryn P. Burdon, Theresa Casey, Jamie E. Craig, 2017, BMC Medical Genetics.

Normal-tension glaucoma is associated with cognitive impairment

P. Gharahkhani, E. Souzeau, J. Craig, 2021, British Journal of Ophthalmology.

The genetic and clinical landscape of nanophthalmos in an Australian cohort

D. MacArthur, M. Coote, L. Kearns, 2019 .

Mutation in TMEM 98 in a Large White Kindred with Autosomal Dominant Nanophthalmos Linked to 17 p 12-q 12

E. Souzeau, J. Craig, K. Burdon, 2016 .

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

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

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.

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

E. Souzeau, J. Craig, K. Burdon, 2014, Gene.

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.

Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma.

D. Mackey, A. Hewitt, P. Gharahkhani, 2021, JAMA ophthalmology.

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

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

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

Ivana K. Kim, Gabriëlle H S Buitendijk, Alan M. Kwong, 2015, Nature Genetics.

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.

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

Ivana K. Kim, Gabriëlle H S Buitendijk, Alan M. Kwong, 2015, Nature Genetics.

Nature Genetics Advance Online Publication

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2022 .

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

Gabriëlle H S Buitendijk, Doheny, R. T. Smith, 2015 .

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

M. Brown, R. Mills, E. Souzeau, 2017, Investigative ophthalmology & visual science.

Attitudes towards polygenic risk testing in individuals with glaucoma.

D. Mackey, A. Hewitt, E. Souzeau, 2021, Ophthalmology. Glaucoma.

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

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

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.