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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
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Published in:
Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02936-7
By:
- Sullivan, Patricia J.;
- Gayevskiy, Velimir;
- Davis, Ryan L.;
- Wong, Marie;
- Mayoh, Chelsea;
- Mallawaarachchi, Amali;
- Hort, Yvonne;
- McCabe, Mark J.;
- Beecroft, Sarah;
- Jackson, Matilda R.;
- Arts, Peer;
- Dubowsky, Andrew;
- Laing, Nigel;
- Dinger, Marcel E.;
- Scott, Hamish S.;
- Oates, Emily;
- Pinese, Mark;
- Cowley, Mark J.
Publication type:
Article
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Published in:
Acta Diabetologica, 2024, v. 61, n. 2, p. 181, doi. 10.1007/s00592-023-02193-x
By:
- De Sousa, Sunita M. C.;
- Wu, Kathy H. C.;
- Colclough, Kevin;
- Rawlings, Lesley;
- Dubowsky, Andrew;
- Monnik, Melissa;
- Poplawski, Nicola;
- Scott, Hamish S.;
- Horowitz, Michael;
- Torpy, David J.
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
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Published in:
Clinical Genetics, 2022, v. 101, n. 1, p. 122, doi. 10.1111/cge.14064
By:
- Mikaeel, Reger R.;
- Young, Joanne P.;
- Li, Yun;
- Poplawski, Nicola K.;
- Smith, Eric;
- Horsnell, Mehgan;
- Uylaki, Wendy;
- Tomita, Yoko;
- Townsend, Amanda R.;
- Feng, Jinghua;
- Zibat, Arne;
- Kaulfuß, Silke;
- Müller, Christian;
- Yigit, Gökhan;
- Wollnik, Bernd;
- Scott, Hamish;
- Rawlings, Lesley;
- Henry, Denae;
- Vakulin, Cassandra;
- Dubowsky, Andrew
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
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
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
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

Found: 12