A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

by Pernille A. Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan
Published 2020-06-01

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

by David Coman FRACP, Tom Fullston PhD, Cheryl Shoubridge PhD, Richard Leventer PhD, Flora Wong FRACP, Simon Nazaretian FRCPA, Ian Simpson FRCPA, Josef Gecz PhD, George McGillivray FRACP
Published 2017-11-01

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review

by Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin B. Delatycki, Alison Yeung, Matthew F. Hunter, David J. Amor, Natasha J. Brown, Chloe A. Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul Fernandez, Justine Marum, Dean Phelan, Lynn S. Pais, Susan M. White, Sebastian Lunke, Tiong Y. Tan
Published 2020-11-01

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

by Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Published 2018-08-01