Publications
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
Abstract
Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion.
| Type | Journal |
|---|---|
| ISBN | 1530-0366 |
| Authors | Ma, Alan; Yousoof, Saira; Grigg, John R.; Flaherty, Maree; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Fisk, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Karaconji, Tanya; Elder, James E.; Enriquez, Annabelle; Wilson, Meredith; Amor, David J.; Stutterd, Chloe A.; Kamien, Benjamin; Nelson, John; Dinger, Marcel E.; Bennetts, Bruce; Jamieson, Robyn V. |
| Responsible Garvan Author | (missing name) |
| Publisher Name | GENETICS IN MEDICINE |
| Published Date | 2020-10-31 |
| Published Volume | 22 |
| Published Issue | 10 |
| Published Pages | 1623-1632 |
| Status | Published in-print |
| DOI | 10.1038/s41436-020-0854-x |
| URL link to publisher's version | https://www.ncbi.nlm.nih.gov/pubmed/32499604 |