1. Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights. (June 2021) Authors: Slack, Jonathan C; Bründler, Marie-Anne; Chang, Caitlin A; Perrier, Renee; Lafay-Cousin, Lucie; Kurek, Kyle C Journal: Pediatric and developmental pathology Issue: Volume 24:Number 3(2021) Page Start: 235 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features. Issue 10 (20th August 2020) Authors: Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; W... Journal: Journal of medical genetics Issue: Volume 58:Issue 10(2021) Page Start: 712 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap. Issue 9 (24th July 2018) Authors: McCuaig, Jeanna M; Stockley, Tracy L; Shaw, Patricia; Fung-Kee-Fung, Michael; Altman, Alon D; Bentley, James; Bernardini, Marcus Q; Cormier, Beatrice; Hirte, Hal; Kieser, Katharina; MacMillan, Andree; Meschino, Wendy S; Panabaker, Karen; Perrier, Renee; Provencher, Diane; Schrader, Kasmintan A; S... Other Names: author non-byline.; Dornan Kimberly author non-byline.; Farag Maria author non-byline.; Ghatage Prafull author non-byline.; Grover Kelly author non-byline.; Hawrysh Andrea author non-byline.; Mcgee Jacob author non-byline.; Schindeler Karen author non-byline.; Speevak Marsha author non-byline.; ... Journal: Journal of medical genetics Issue: Volume 55:Issue 9(2018) Page Start: 571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome. Issue 2 (5th January 2014) Authors: Peters, Tess; Perrier, Renee; Haber, Richard M. Journal: Pediatric dermatology Issue: Volume 31:Issue 2(2014) Page Start: 220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype. (4th July 2021) Authors: Martin, Georgina; Grimholt, Runa M.; Le, Doan; Bechensteen, Anne G.; Klingenberg, Olav; Fjeld, Bente; Fourie, Thomas; Perrier, Renee; Proven, Melanie; Henderson, Shirley J.; Roy, Noémi B. A. Journal: Hemoglobin Issue: Volume 45:Number 4(2021) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. Issue 12 (21st July 2016) Authors: Liu, David J.; Perrier, Renee; Wei, Xing‐Chang; Joseph, Jeffrey T; Strother, Douglas Journal: Pediatric blood & cancer Issue: Volume 63:Issue 12(2016) Page Start: 2240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns‐like phenotype. (23rd May 2017) Authors: Bone, Kathleen M.; Chernos, Judy E.; Perrier, Renee; Innes, A. Micheil; Bernier, Francois P.; McLeod, Ross; Thomas, Mary Ann Journal: Prenatal diagnosis Issue: Volume 37:Number 6(2017) Page Start: 602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants. Issue 9 (30th May 2021) Authors: Chang, Caitlin A.; Perrier, Renee; Kurek, Kyle C.; Estrada‐Veras, Juvianee; Lehman, Anna; Yip, Stephen; Hendson, Glenda; Diamond, Carol; Pinchot, Jason W.; Tran, Jennifer M.; Arkin, Lisa M.; Drolet, Beth A.; Napier, Melanie P.; O'Neill, Sarah A.; Balci, Tugce B.; Keppler‐Noreuil, Kim M. Other Names: Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 9(2021) Page Start: 2829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Significant frequency of MSH2/MSH6 abnormality in ovarian endometrioid carcinoma supports histotype‐specific Lynch syndrome screening in ovarian carcinomas. Issue 2 (26th February 2016) Authors: Rambau, Peter F; Duggan, Máire A; Ghatage, Prafull; Warfa, Khadija; Steed, Helen; Perrier, Renee; Kelemen, Linda E; Köbel, Martin Journal: Histopathology Issue: Volume 69:Issue 2(2016) Page Start: 288 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗