Works matching AU Souzeau, Emmanuelle

Results: 41

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

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482

By:

Burdon, Kathryn P.;
Graham, Patricia;
Hadler, Johanna;
Hulleman, John D.;
Pasutto, Francesca;
Boese, Erin A.;
Craig, Jamie E.;
Fingert, John H.;
Hewitt, Alex W.;
Siggs, Owen M.;
Whisenhunt, Kristina;
Young, Terri L.;
Mackey, David A.;
Dubowsky, Andrew;
Souzeau, Emmanuelle

Publication type:

Article

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

Published in:

Human Mutation, 2021, v. 42, n. 7, p. 818, doi. 10.1002/humu.24214

By:

Mullany, Sean;
Souzeau, Emmanuelle;
Klebe, Sonja;
Zhou, Tiger;
Knight, Lachlan S. W.;
Qassim, Ayub;
Berry, Ella C.;
Marshall, Henry;
Hussey, Matthew;
Dubowsky, Andrew;
Breen, James;
Hassall, Mark M.;
Mills, Richard A.;
Craig, Jamie E.;
Siggs, Owen M.

Publication type:

Article

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

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260

By:

Laurie, Kate J.;
Dave, Alpana;
Straga, Tania;
Souzeau, Emmanuelle;
Chataway, Timothy;
Sykes, Matthew J.;
Casey, Theresa;
Teo, Theodosia;
Pater, John;
Craig, Jamie E.;
Sharma, Shiwani;
Burdon, Kathryn P.

Publication type:

Article

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.

Published in:

2021

By:

Souzeau, Emmanuelle;
Weisschuh, Nicole;
Craig, Jamie E.;
Pasutto, Francesca;
Koch, Karl-Wilhelm

Publication type:

Letter

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

Published in:

PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199178

By:

Lucas, Sionne E. M.;
Charlesworth, Jac C.;
Burdon, Kathryn P.;
Blackburn, Nicholas B.;
Zhou, Tiger;
Mills, Richard A.;
Souzeau, Emmanuelle;
Ridge, Bronwyn;
Craig, Jamie E.;
Ellis, Jonathan;
Leo, Paul;
Lindsay, Richard

Publication type:

Article

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

Published in:

Nature Genetics, 2011, v. 43, n. 6, p. 574, doi. 10.1038/ng.824

By:

Burdon, Kathryn P.;
Macgregor, Stuart;
Hewitt, Alex W.;
Sharma, Shiwani;
Chidlow, Glyn;
Mills, Richard A.;
Danoy, Patrick;
Casson, Robert;
Viswanathan, Ananth C.;
Liu, Jimmy Z.;
Landers, John;
Henders, Anjali K.;
Wood, John;
Souzeau, Emmanuelle;
Crawford, April;
Leo, Paul;
Jie Jin Wang;
Rochtchina, Elena;
Nyholt, Dale R.;
Martin, Nicholas G.

Publication type:

Article

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Published in:

American Journal of Neuroradiology, 2023, v. 44, n. 10, p. 1231, doi. 10.3174/ajnr.A7995

By:

White, Samuel;
Taranath, Ajay;
Hanagandi, Prasad;
Taranath, Deepa A.;
Minh-Son To;
Souzeau, Emmanuelle;
Siggs, Owen M.;
Craig, Jamie E.

Publication type:

Article

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

Published in:

Ophthalmic Genetics, 2020, v. 41, n. 4, p. 368, doi. 10.1080/13816810.2020.1776335

By:

Shields, Melissa;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Gupta, Aanchal

Publication type:

Article

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

Published in:

Ophthalmic Genetics, 2019, v. 40, n. 1, p. 12, doi. 10.1080/13816810.2018.1561904

By:

Siggs, Owen M;
Souzeau, Emmanuelle;
Craig, Jamie E

Publication type:

Article

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

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 2, p. 221, doi. 10.1080/13816810.2017.1413659

By:

Burdon, Kathryn P.;
Awadalla, Mona S.;
Mitchell, Paul;
Wang, Jie Jin;
White, Andrew;
Keane, Miriam C.;
Souzeau, Emmanuelle;
Graham, Stuart L.;
Goldberg, Ivan;
Healey, Paul R.;
Landers, John;
Mills, Richard A. D.;
Best, Stephen;
Hewitt, Alex W.;
Sharma, Shiwani;
Craig, Jamie E.

Publication type:

Article

Childhood glaucoma: Implications for genetic counselling.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 545, doi. 10.1111/cge.14603

By:

Maxwell, Giorgina;
Souzeau, Emmanuelle

Publication type:

Article

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

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722

By:

Siggs, Owen M.;
Awadalla, Mona S.;
Souzeau, Emmanuelle;
Staffieri, Sandra E.;
Kearns, Lisa S.;
Laurie, Kate;
Kuot, Abraham;
Qassim, Ayub;
Edwards, Thomas L.;
Coote, Michael A.;
Mancel, Erica;
Walland, Mark J.;
Dondey, Joanne;
Galanopoulous, Anna;
Casson, Robert J.;
Mills, Richard A.;
MacArthur, Daniel G.;
Ruddle, Jonathan B.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 434, doi. 10.1002/ajmg.a.61982

By:

Souzeau, Emmanuelle;
Siggs, Owen M.;
Pasutto, Francesca;
Knight, Lachlan S. W.;
Perez‐Jurado, Luis A.;
McGregor, Lesley;
Le Blanc, Shannon;
Barnett, Christopher P.;
Liebelt, Jan;
Craig, Jamie E.

Publication type:

Article

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

Published in:

Molecular Vision, 2022, v. 28, p. 257

By:

Knight, Lachlan S. W.;
Mullany, Sean;
Taranath, Deepa A.;
Ruddle, Jonathan B.;
Barnett, Christopher P.;
Sallevelt, Suzanne C. E. H.;
Berry, Ella C.;
Marshall, Henry N.;
Hollitt, Georgina L.;
Souzeau, Emmanuelle;
Craig, Jamie E.;
Siggs, Owen M.

Publication type:

Article

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

Published in:

Molecular Vision, 2019, v. 25, p. 527

By:

Siggs, Owen M.;
Souzeau, Emmanuelle;
Breen, James;
Qassim, Ayub;
Zhou, Tiger;
Dubowsky, Andrew;
Ruddle, Jonathan B.;
Craig, Jamie E.

Publication type:

Article

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

Published in:

Molecular Vision, 2018, v. 24, p. 261

By:

Souzeau, Emmanuelle;
Rudkin, Adam K.;
Dubowsky, Andrew;
Casson, Robert J.;
Muecke, James S.;
Mancel, Erica;
Whiting, Mark;
Mills, Richard A. D.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

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

Published in:

Scientific Reports, 2016, p. 26885, doi. 10.1038/srep26885

By:

Cuellar-Partida, Gabriel;
Craig, Jamie E.;
Burdon, Kathryn P.;
Wang, Jie Jin;
Vote, Brendan J.;
Souzeau, Emmanuelle;
McAllister, Ian L.;
Isaacs, Timothy;
Lake, Stewart;
Mackey, David A.;
Constable, Ian J.;
Mitchell, Paul;
Hewitt, Alex W.;
MacGregor, Stuart

Publication type:

Article

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

Published in:

PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183719

By:

Kuot, Abraham;
Hewitt, Alex W.;
Snibson, Grant R.;
Souzeau, Emmanuelle;
Mills, Richard;
Craig, Jamie E.;
Burdon, Kathryn P.;
Sharma, Shiwani

Publication type:

Article

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

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0172427

By:

Zhou, Tiger;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Landers, John;
Mills, Richard;
Goldberg, Ivan;
Healey, Paul R.;
Graham, Stuart;
Hewitt, Alex W.;
Mackey, David A.;
Galanopoulos, Anna;
Casson, Robert J.;
Ruddle, Jonathan B.;
Ellis, Jonathan;
Leo, Paul;
Brown, Matthew A.;
MacGregor, Stuart;
Lynn, David J.;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023

By:

Souzeau, Emmanuelle;
Siggs, Owen M.;
Mullany, Sean;
Schmidt, Joshua M.;
Hassall, Mark M.;
Dubowsky, Andrew;
Chappell, Angela;
Breen, James;
Bae, Haae;
Nicholl, Jillian;
Hadler, Johanna;
Kearns, Lisa S.;
Staffieri, Sandra E.;
Hewitt, Alex W.;
Mackey, David A.;
Gupta, Aanchal;
Burdon, Kathryn P.;
Klebe, Sonja;
Craig, Jamie E.;
Mills, Richard A.

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.774

By:

Souzeau, Emmanuelle;
Dubowsky, Andrew;
Ruddle, Jonathan B.;
Craig, Jamie E.

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 624, doi. 10.1002/mgg3.248

By:

Zhou, Tiger;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Siggs, Owen M.;
Goldberg, Ivan;
Healey, Paul R.;
Graham, Stuart;
Hewitt, Alex W.;
Mackey, David A.;
Casson, Robert J.;
Landers, John;
Mills, Richard;
Ellis, Jonathan;
Leo, Paul;
Brown, Matthew A.;
MacGregor, Stuart;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

Article

Progress in Translating Glaucoma Genetics Into the Clinic: A Review.

Published in:

Clinical & Experimental Ophthalmology, 2025, v. 53, n. 3, p. 246, doi. 10.1111/ceo.14500

By:

Kolovos, Antonia;
Maxwell, Giorgina;
Souzeau, Emmanuelle;
Craig, Jamie E.

Publication type:

Article

Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma.

Published in:

Clinical & Experimental Ophthalmology, 2024, v. 52, n. 9, p. 957, doi. 10.1111/ceo.14438

By:

Hollitt, Georgina L.;
Keane, Miriam C.;
Nguyen, Thi T.;
Hassall, Mark M.;
Siggs, Owen M.;
Craig, Jamie E.;
Souzeau, Emmanuelle

Publication type:

Article

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis.

Published in:

2018

By:

Maccora, Katia A;
Souzeau, Emmanuelle;
Ruddle, Jonathan B;
Craig, Jamie E

Publication type:

Case Study

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

Published in:

Clinical & Experimental Ophthalmology, 2012, v. 40, n. 6, p. 569, doi. 10.1111/j.1442-9071.2011.02742.x

By:

Souzeau, Emmanuelle;
Goldberg, Ivan;
Healey, Paul R;
Mills, Richard AD;
Landers, John;
Graham, Stuart L;
Grigg, John RB;
Usher, Bronwyn;
Straga, Tania;
Crawford, April;
Casson, Robert J;
Morgan, William H;
Ruddle, Jonathan B;
Coote, Michael A;
White, Andrew;
Stewart, James;
Hewitt, Alex W;
Mackey, David A;
Burdon, Kathryn P;
Craig, Jamie E

Publication type:

Article

Impact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocol.

Published in:

PLoS ONE, 2024, v. 19, n. 12, p. 1, doi. 10.1371/journal.pone.0312390

By:

Maxwell, Giorgina;
Allen, Robert;
Kelley, Simone;
Hodge, Lucinda;
Hollitt, Georgina L.;
Seviiri, Mathias;
Thomson, Daniel;
Schmidt, Joshua;
Craig, Jamie E.;
Cohen-Woods, Sarah;
Souzeau, Emmanuelle

Publication type:

Article

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

Published in:

2017

By:

Thomson, Benjamin R.;
Tomokazu Souma;
Onay, Tuncer;
Tanna, Christine E.;
Jing Jin;
Quaggin, Susan E.;
Finzi, Simone;
Hewitt, Alex W.;
Mackey, David A.;
Wiggs, Janey L.;
Pasutto, Francesca;
Tompson, Stuart W.;
Whisenhunt, Kristina N.;
Bradfield, Yasmin S.;
Young, Terri L.;
Kizhatil, Krishnakumar;
John, Simon W. M.;
Siggs, Owen M.;
Souzeau, Emmanuelle;
Javadiyan, Shari

Publication type:

journal article

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

Published in:

2016

By:

Tomokazu Souma;
Tompson, Stuart W.;
Thomson, Benjamin R.;
Siggs, Owen M.;
Kizhatil, Krishnakumar;
Shinji Yamaguchi;
Liang Feng;
Limviphuvadh, Vachiranee;
Whisenhunt, Kristina N.;
Maurer-Stroh, Sebastian;
Yanovitch, Tammy L.;
Kalaydjieva, Luba;
Azmanov, Dimitar N.;
Finzi, Simone;
Mauri, Lucia;
Javadiyan, Shahrbanou;
Souzeau, Emmanuelle;
Zhou, Tiger;
Hewitt, Alex W.;
Kloss, Bethany

Publication type:

journal article

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

Published in:

2023

By:

Siggs, Owen M.;
Qassim, Ayub;
Han, Xikun;
Marshall, Henry N.;
Mullany, Sean;
He, Weixiong;
Souzeau, Emmanuelle;
Galanopoulos, Anna;
Agar, Ashish;
Landers, John;
Casson, Robert J.;
Hewitt, Alex W.;
Healey, Paul R.;
Graham, Stuart L.;
MacGregor, Stuart;
Craig, Jamie E.

Publication type:

journal article

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

Published in:

2021

By:

Siggs, Owen M.;
Han, Xikun;
Qassim, Ayub;
Souzeau, Emmanuelle;
Kuruvilla, Shilpa;
Marshall, Henry N.;
Mullany, Sean;
Mackey, David A.;
Hewitt, Alex W.;
Gharahkhani, Puya;
MacGregor, Stuart;
Craig, Jamie E.

Publication type:

journal article

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

Published in:

2019

By:

Siggs, Owen M.;
Souzeau, Emmanuelle;
Pasutto, Francesca;
Dubowsky, Andrew;
Smith, James E. H.;
Taranath, Deepa;
Pater, John;
Rait, Julian L.;
Narita, Andrew;
Mauri, Lucia;
Del Longo, Alessandra;
Reis, André;
Chappell, Angela;
Kearns, Lisa S.;
Staffieri, Sandra E.;
Elder, James E.;
Ruddle, Jonathan B.;
Hewitt, Alex W.;
Burdon, Kathryn P.;
Mackey, David A.

Publication type:

journal article

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

Published in:

2019

By:

Han, Xikun;
Souzeau, Emmanuelle;
Ong, Jue-Sheng;
An, Jiyuan;
Siggs, Owen M.;
Burdon, Kathryn P.;
Best, Stephen;
Goldberg, Ivan;
Healey, Paul R.;
Graham, Stuart L.;
Ruddle, Jonathan B.;
Mills, Richard A.;
Landers, John;
Galanopoulos, Anna;
White, Andrew J.R.;
Casson, Robert;
Mackey, David A.;
Hewitt, Alex W.;
Gharahkhani, Puya;
Craig, Jamie E.

Publication type:

journal article

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

Published in:

2015

By:

Souzeau, Emmanuelle;
Hayes, Melanie;
Zhou, Tiger;
Siggs, Owen M.;
Ridge, Bronwyn;
Awadalla, Mona S.;
Smith, James E. H.;
Ruddle, Jonathan B.;
Elder, James E.;
Mackey, David A.;
Hewitt, Alex W.;
Healey, Paul R.;
Goldberg, Ivan;
Morgan, William H.;
Landers, John;
Dubowsky, Andrew;
Burdon, Kathryn P.;
Craig, Jamie E.

Publication type:

journal article

Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12.

Published in:

JAMA Ophthalmology, 2014, v. 132, n. 8, p. 970, doi. 10.1001/jamaophthalmol.2014.946

By:

Awadalla, Mona S.;
Burdon, Kathryn P.;
Souzeau, Emmanuelle;
Landers, John;
Hewitt, Alex W.;
Sharma, Shiwani;
Craig, Jamie E.

Publication type:

Article

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-024-02079-z

By:

Hollitt, Georgina L;
Hassall, Mark M;
Siggs, Owen M;
Craig, Jamie E;
Souzeau, Emmanuelle

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0414-7

By:

Javadiyan, Shari;
Craig, Jamie E.;
Sharma, Shiwani;
Lower, Karen M.;
Casey, Theresa;
Haan, Eric;
Souzeau, Emmanuelle;
Burdon, Kathryn P.

Publication type:

Article

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

Published in:

BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1890-0

By:

Javadiyan, Shari;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Lower, Karen M.;
Pater, John;
Casey, Theresa;
Hodson, Trevor;
Burdon, Kathryn P.

Publication type:

Article

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

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 10, p. 3257, doi. 10.1534/g3.117.300109

By:

Javadiyan, Shari;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Lower, Karen M.;
Mackey, David A.;
Staffieri, Sandra E.;
Elder, James E.;
Taranath, Deepa;
Straga, Tania;
Black, Joanna;
Pater, John;
Casey, Theresa;
Hewitt, Alex W.;
Burdon, Kathryn P.

Publication type:

Article

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.

Published in:

BMC Ophthalmology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12886-023-03143-5

By:

Hollitt, Georgina L;
Qassim, Ayub;
Thomson, Daniel;
Schmidt, Joshua M;
Nguyen, Thi Thi;
Landers, John;
MacGregor, Stuart;
Siggs, Owen M;
Souzeau, Emmanuelle;
Craig, Jamie E

Publication type:

Article

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

Published in:

2016

By:

Souzeau, Emmanuelle;
Burdon, Kathryn P.;
Ridge, Bronwyn;
Dubowsky, Andrew;
Ruddle, Jonathan B.;
Craig, Jamie E.

Publication type:

Case Study