1. A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?. (20th September 2011) Authors: Baynam, Gareth; Schofield, Lyn; Goldblatt, Jack Journal: BMJ case reports Issue: Volume 2011 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. (6th April 2015) Authors: Baynam, Gareth; Overkov, Angela; Davis, Mark; Mina, Kym; Schofield, Lyn; Allcock, Richard; Laing, Nigel; Cook, Matthew; Dawkins, Hugh; Goldblatt, Jack Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State‐Wide Familial Cancer Program in Perth, Western Australia. Issue 1 (6th June 2016) Authors: Freedman, Rebecca; Mountain, Helen; Karina, Dian; Schofield, Lyn Journal: Journal of genetic counseling Issue: Volume 26:Issue 1(2017) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. 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) ↗
9. Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry. Issue 6 (15th April 2021) Authors: Gupta, Surabhi; Nichols, Cassandra B; Phillips, Jessica; O'Sullivan, Sarah; Ayres, Chloe; Mohan, Ganendra Raj; Leung, Yee; Stewart, Colin J.R.; Tan, Adeline; Schofield, Lyn; Salfinger, Stuart G; Kiraly-Borri, Catherine; Pachter, Nicholas; Cohen, Paul A Journal: International journal of gynecological cancer Issue: Volume 31:Issue 6(2021) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry. Issue 6 (June 2021) Authors: Gupta, Surabhi; Nichols, Cassandra B; Phillips, Jessica; O'Sullivan, Sarah; Ayres, Chloe; Mohan, Ganendra Raj; Leung, Yee; Stewart, Colin J.R.; Tan, Adeline; Schofield, Lyn; Salfinger, Stuart G; Kiraly‐Borri, Catherine; Pachter, Nicholas; Cohen, Paul A Journal: International journal of gynecological cancer Issue: Volume 31:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗