Atypical Angelman syndrome due to a mosaic imprinting defect: case reports and review of the literature
- Creator: Le Fevre, Anna , Beygo, Jasmin , Silveira, Cheryl , Kamien, Benjamin , Clayton-Smith, Jill , Colley, Alison , Buiting, Karin , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
- Creator: Dagar, Vinod , Hutchison, Wendy , Muscat, Andrea , Krishnan, Anita , Hoke, David , Buckle, Ashley , Siswara, Priscillia , Amor, David J. , Mann, Jeffrey , Pinner, Jason , Colley, Alison , Wilson, Meredith , Sachdev, Rani , McGillivray, George , Edwards, Matthew , Kirk, Edwin , Collins, Felicity , Jones, Kristi , Taylor, Juliet , Hayes, Ian , Dudding-Byth, Tracey
- Resource Type: journal article
- Date: 2018
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
- Creator: Bagnall, Richard D. , Ingles, Jodie , Berman, Yemima , Ronan, Anne , Fatkin, Diane , Semsarian, Christopher , Dinger, Marcel E. , Cowley, Mark J. , Ross, Samantha Barratt , Minoche, André E. , Lal, Sean , Turner, Christian , Colley, Alison , Rajagopalan, Sulekha
- Resource Type: journal article
- Date: 2018