Works by Dubowsky, Andrew

Results: 12

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

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

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

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

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

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