Andrew Dubowsky

发表

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.

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.

S. M. D. De Sousa, K. Colclough, M. Monnik, 2023, Acta diabetologica.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

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

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

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

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.

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Anna L. Brown, Paul P. S. Wang, S. Fröhling, 2020, Blood advances.

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

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