Emmanuelle Souzeau

Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 13

Top Venues

Molecular genetics & genomic medicine

Human mutation

Nature genetics

Clinical genetics

Flinders University

Flinders University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Flinders University Aug 19 2008

Australia

Genetic Counsellor :: Department of Ophthalmology

Education History

Flinders University Jan 01 2016 - Dec 19 2017

Australia

PHD

University of Montreal

Canada

MSC

Publications

Giorgina Maxwell, Emmanuelle Souzeau
Childhood glaucoma: Implications for genetic counselling. Clinical genetics (2024)
Samuel J White, Ajay Taranath, Prasad Hanagandi, Deepa A Taranath, Minh-Son To, Emmanuelle Souzeau, Owen M Siggs, Jamie E Craig
Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series. AJNR. American journal of neuroradiology (2023)
Emmanuelle Souzeau, Owen M Siggs, Sean Mullany, Joshua M Schmidt, Mark M Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S Kearns, Sandra E Staffieri, Alex W Hewitt, David A Mackey, Aanchal Gupta, Kathryn P Burdon, Sonja Klebe, Jamie E Craig, Richard A Mills
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort. Molecular genetics & genomic medicine 10 (10) (2022)
Kathryn P Burdon, Patricia Graham, Johanna Hadler, John D Hulleman, Francesca Pasutto, Erin A Boese, Jamie E Craig, John H Fingert, Alex W Hewitt, Owen M Siggs, Kristina Whisenhunt, Terri L Young, David A Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel. Human mutation (2022)
Sean Mullany, Emmanuelle Souzeau, Sonja Klebe, Tiger Zhou, Lachlan S W Knight, Ayub Qassim, Ella C Berry, Henry Marshall, Matthew Hussey, Andrew Dubowsky, James Breen, Mark M Hassall, Richard A Mills, Jamie E Craig, Owen M Siggs
A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type. Human mutation 42 (7) (2021)
Emmanuelle Souzeau, Nicole Weisschuh, Jamie E Craig, Francesca Pasutto, Karl-Wilhelm Koch
An Assessment of GUCA1C Variants in Primary Congenital Glaucoma. Genes 12 (3) (2021)
Emmanuelle Souzeau, Owen M Siggs, Francesca Pasutto, Lachlan S W Knight, Luis A Perez-Jurado, Lesley McGregor, Shannon Le Blanc, Christopher P Barnett, Jan Liebelt, Jamie E Craig
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. American journal of medical genetics. Part A 185 (2) (2020)
Jamie E Craig, Xikun Han, Ayub Qassim, Mark M Hassall, Jessica N Cooke Bailey, Tyler G Kinzy, Anthony P Khawaja, Jiyuan An, Henry Marshall, Puya Gharahkhani, Robert P Igo, Stuart L Graham, Paul R Healey, Jue-Sheng Ong, Tiger Zhou, Owen M Siggs, Matthew H Law, Emmanuelle Souzeau, Bronwyn Ridge, Pirro G Hysi, Kathryn P Burdon, Richard A Mills, John Landers, Jonathan B Ruddle, Ashish Agar, Anna Galanopoulos, Andrew J R White, Colin Eric Willoughby, Nicholas H Andrew, Stephen Best, Andrea L Vincent, Ivan Goldberg, Graham L Radford-Smith, Nicholas G Martin, Grant W Montgomery, Veronique Vitart, Rene Hoehn, Robert Wojciechowski, Jost Bruno Jonas, Tin Aung, Louis R Pasquale, Angela Jane Cree, Sobha Sivaprasad, Neeru A Vallabh, null null, null null, Ananth C Viswanathan, Francesca Pasutto, Jonathan L Haines, Caroline C W Klaver, Cornelia M van Duijn, Robert J Casson, Paul J Foster, Peng Tee Khaw, Christopher J Hammond, David A Mackey, Paul Mitchell, Andrew John Lotery, Janey L Wiggs, Alex W Hewitt, Stuart Macgregor
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nature genetics 52 (2) (2020)
Owen M Siggs, Mona S Awadalla, Emmanuelle Souzeau, Sandra E Staffieri, Lisa S Kearns, Kate Laurie, Abraham Kuot, Ayub Qassim, Thomas L Edwards, Michael A Coote, Erica Mancel, Mark J Walland, Joanne Dondey, Anna Galanopoulous, Robert J Casson, Richard A Mills, Daniel G MacArthur, Jonathan B Ruddle, Kathryn P Burdon, Jamie E Craig
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clinical genetics 97 (5) (2020)
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, null null, Pieter W M Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Emmanuelle Souzeau, Sandra E Staffieri, Jost Bruno Jonas, Irene Schmidtmann, Thibaud Boutin, Jae Hee Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, null null, null null, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart Macgregor
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature communications 10 (1) (2019)
Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B Ruddle, Jamie E Craig
Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion. Molecular genetics & genomic medicine 7 (8) (2019)
Stuart Macgregor, Jue-Sheng Ong, Jiyuan An, Xikun Han, Tiger Zhou, Owen M Siggs, Matthew H Law, Emmanuelle Souzeau, Shiwani Sharma, David J Lynn, Jonathan Beesley, Bronwyn Sheldrick, Richard A Mills, John Landers, Jonathan B Ruddle, Stuart L Graham, Paul R Healey, Andrew J R White, Robert J Casson, Stephen Best, John R B Grigg, Ivan Goldberg, Joseph E Powell, David C Whiteman, Graham L Radford-Smith, Nicholas G Martin, Grant W Montgomery, Kathryn P Burdon, David A Mackey, Puya Gharahkhani, Jamie E Craig, Alex W Hewitt
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nature genetics 50 (8) (2018)
Puya Gharahkhani, Kathryn P Burdon, Jessica N Cooke Bailey, Alex W Hewitt, Matthew H Law, Louis R Pasquale, Jae Hee Kang, Jonathan L Haines, Emmanuelle Souzeau, Tiger Zhou, Owen M Siggs, John Landers, Mona Awadalla, Shiwani Sharma, Richard A Mills, Bronwyn Ridge, David Lynn, Robert Casson, Stuart L Graham, Ivan Goldberg, Andrew White, Paul R Healey, John Grigg, Mitchell Lawlor, Paul Mitchell, Jonathan Ruddle, Michael Coote, Mark Walland, Stephen Best, Andrea Vincent, Jesse Gale, Graham RadfordSmith, David C Whiteman, Grant W Montgomery, Nicholas G Martin, David A Mackey, Janey L Wiggs, Stuart MacGregor, Jamie E Craig, null null
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Scientific reports 8 (1) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Emmanuelle Souzeau