1. A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes. Issue 1 (21st January 2018) Authors: Bouron-Dal Soglio, Dorothée; de Kock, Leanne; Gauci, Richard; Sabbaghian, Nelly; Thomas, Elizabeth; Atkinson, Helen C.; Pachter, Nicholas; Ryan, Simon; Walsh, John P.; Kumarasinghe, M. Priyanthi; Carpenter, Karen; Aydoğan, Ayça; Stewart, Colin J.R.; Foulkes, William&... Journal: European thyroid journal Issue: Volume 7:Issue 1(2018) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Issue 11 (November 2021) Authors: Bancroft, Elizabeth K; Page, Elizabeth C; Brook, Mark N; Thomas, Sarah; Taylor, Natalie; Pope, Jennifer; McHugh, Jana; Jones, Ann-Britt; Karlsson, Questa; Merson, Susan; Ong, Kai Ren; Hoffman, Jonathan; Huber, Camilla; Maehle, Lovise; Grindedal, Eli Marie; Stormorken, Astrid; Evans, D Gareth; Rot... Journal: Lancet oncology Issue: Volume 22:Issue 11(2021) Page Start: 1618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. (March 2018) Authors: Szot, Justin O.; Cuny, Hartmut; Blue, Gillian M.; Humphreys, David T.; Ip, Eddie; Harrison, Katrina; Sholler, Gary F.; Giannoulatou, Eleni; Leo, Paul; Duncan, Emma L.; Sparrow, Duncan B.; Ho, Joshua W.K.; Graham, Robert M.; Pachter, Nicholas; Chapman, Gavin; Winlaw, David S.; Dunwoodie, Sally L. Journal: Circulation Issue: Volume 11:Number 3(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Current mismatch repair deficiency tumor testing practices and capabilities: A survey of Australian pathology providers. (7th October 2018) Authors: Mascarenhas, Lyon; Shanley, Susan; Mitchell, Gillian; Spurdle, Amanda B.; Macrae, Finlay; Pachter, Nicholas; Buchanan, Daniel D.; Ward, Robyn L.; Fox, Stephen; Duxbury, Elaine; Driessen, Rebecca; Boussioutas, Alex Journal: Asia-Pacific journal of clinical oncology Issue: Volume 14(2018)Supplement 6 Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Issue 1 (December 2016) Authors: Eggers, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid; Tan, Tiong; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia; Heloury, Yves; Zacharin, Margaret; Ber... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing. Issue 5 (1st June 2016) Authors: Cohen, Paul A.; Nichols, Cassandra B.; Schofield, Lyn; Van Der Werf, Steven; Pachter, Nicholas Journal: International journal of gynecological cancer Issue: Volume 26:Issue 5(2016) Page Start: 892 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing. Issue 5 (June 2016) Authors: Cohen, Paul A.; Nichols, Cassandra B.; Schofield, Lyn; Van Der Werf, Steven; Pachter, Nicholas Journal: International journal of gynecological cancer Issue: Volume 26:Issue 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. Issue 12 (9th November 2020) Authors: Tudini, Emma; Davidson, Aimee L; Dressel, Uwe; Andrews, Lesley; Antill, Yoland; Crook, Ashley; Field, Michael; Gattas, Michael; Harris, Rebecca; Kirk, Judy; Pachter, Nicholas; Salmon, Lucinda; Susman, Rachel; Townshend, Sharron; Trainer, Alison H; Tucker, Katherine M; Mitchell, Gillian; James, Pa... Journal: Journal of medical genetics Issue: Volume 58:Issue 12(2021) Page Start: 853 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas. Issue 1 (7th November 2019) Authors: Dowson, Cassandra B; Stewart, Colin; O'Sullivan, Sarah; Pachter, Nicholas; Schofield, Lyn; Cohen, Paul A Journal: International journal of gynecological cancer Issue: Volume 30:Issue 1(2020) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome. Issue 5 (May 2018) Authors: Shaw, Josephine; Bulsara, Caroline; Cohen, Paul A.; Gryta, Madeleine; Nichols, Cassandra B.; Schofield, Lyn; O'Sullivan, Sarah; Pachter, Nicholas; Hardcastle, Sarah J. Journal: Patient education and counseling Issue: Volume 101:Issue 5(2018) Page Start: 938 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗