1. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. Issue 3 (17th February 2017) Authors: Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton‐Smith, Jill; Colley, Alison; Buiting, Karin; Dudding‐Byth, Tracy Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature. Issue 3 (March 2017) Authors: Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton‐Smith, Jill; Colley, Alison; Buiting, Karin; Dudding‐Byth, Tracy Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021) Authors: Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uirá Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; S... Journal: Neurology Issue: Volume 96:Number 13(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. KBG syndrome: An Australian experience. Issue 7 (27th April 2017) Authors: Murray, Natalia; Burgess, Bronwyn; Hay, Robin; Colley, Alison; Rajagopalan, Sulekha; McGaughran, Julie; Patel, Chirag; Enriquez, Annabelle; Goodwin, Linda; Stark, Zornitza; Tan, Tiong; Wilson, Meredith; Roscioli, Tony; Tekin, Mustafa; Goel, Himanshu Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. Issue 9 (15th October 2020) Authors: Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin; Lamont, Phillipa J; Chan, Sophelia HS; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, ... Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Issue 1 (December 2015) Authors: Todd, Emily; Yau, Kyle; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel; Freckmann, Mary-Louise; Romero, Norma; Williams, Denise; Sewry, Caroline; Colley, Alison; Ryan, Moniqu... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Issue 1 (December 2015) Authors: Todd, Emily; Yau, Kyle; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel; Freckmann, Mary-Louise; Romero, Norma; Williams, Denise; Sewry, Caroline; Colley, Alison; Ryan, Moniqu... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. Issue 9 (25th May 2019) Authors: Ewans, Lisa Jean; Colley, Alison; Gaston-Massuet, Carles; Gualtieri, Angelica; Cowley, Mark J; McCabe, Mark James; Anand, Deepti; Lachke, Salil A; Scietti, Luigi; Forneris, Federico; Zhu, Ying; Ying, Kevin; Walsh, Corrina; Kirk, Edwin P; Miller, David; Giunta, Cecilia; Sillence, David; Dinger, Ma... Journal: Journal of medical genetics Issue: Volume 56:Issue 9(2019) Page Start: 629 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia. Issue 2 (14th December 2018) Authors: Josephi‐Taylor, Sarah; Barlow‐Stewart, Kristine; Selvanathan, Arthavan; Roscioli, Tony; Bittles, Alan; Meiser, Bettina; Worgan, Lisa; Rajagopalan, Sulekha; Colley, Alison; Kirk, Edwin P. Journal: Journal of genetic counseling Issue: Volume 28:Issue 2(2019) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. (December 2018) Authors: Ewans, Lisa; Schofield, Deborah; Shrestha, Rupendra; Zhu, Ying; Gayevskiy, Velimir; Ying, Kevin; Walsh, Corrina; Lee, Eric; Kirk, Edwin; Colley, Alison; Ellaway, Carolyn; Turner, Anne; Mowat, David; Worgan, Lisa; Freckmann, Mary-Louise; Lipke, Michelle; Sachdev, Rani; Miller, David; Field, Michae... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗