1. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report. Issue 7 (19th March 2019) Authors: Lopez-Perolio, Irene; Leman, Raphaël; Behar, Raquel; Lattimore, Vanessa; Pearson, John F; Castéra, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Grégoire; Garre, Pilar; García-Barberán, Vanesa; Llovet, Patricia; Pérez-Segura, Pedro; Díaz-Rubio, Eduardo; Caldés, Trinidad; H... Journal: Journal of medical genetics Issue: Volume 56:Issue 7(2019) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. Issue 12 (11th July 2019) Authors: Xicola, Rosa M; Li, Shuwei; Rodriguez, Nicolette; Reinecke, Patrick; Karam, Rachid; Speare, Virginia; Black, Mary Helen; LaDuca, Holly; Llor, Xavier Journal: Journal of medical genetics Issue: Volume 56:Issue 12(2019) Page Start: 838 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022) Authors: Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Issue 11 (11th October 2018) Authors: Mester, Jessica L.; Ghosh, Rajarshi; Pesaran, Tina; Huether, Robert; Karam, Rachid; Hruska, Kathleen S.; Costa, Helio A.; Lachlan, Katherine; Ngeow, Joanne; Barnholtz‐Sloan, Jill; Sesock, Kaitlin; Hernandez, Felicia; Zhang, Liying; Milko, Laura; Plon, Sharon E.; Hegde, Madhuri; Eng, Charis Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. Issue 35 (10th December 2021) Authors: Yadav, Siddhartha; Hu, Chunling; Nathanson, Katherine L.; Weitzel, Jeffrey N.; Goldgar, David E.; Kraft, Peter; Gnanaolivu, Rohan D.; Na, Jie; Huang, Hongyan; Boddicker, Nicholas J.; Larson, Nicole; Gao, Chi; Yao, Song; Weinberg, Clarice; Vachon, Celine M.; Trentham-Dietz, Amy; Taylor, Jack A.; S... Journal: Journal of clinical oncology Issue: Volume 39:Issue 35(2021) Page Start: 3918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect. Issue 7 (21st June 2018) Authors: Corso, Giovanni; Figueiredo, Joana; La Vecchia, Carlo; Veronesi, Paolo; Pravettoni, Gabriella; Macis, Debora; Karam, Rachid; Lo Gullo, Roberto; Provenzano, Elena; Toesca, Antonio; Mazzocco, Ketti; Carneiro, Fátima; Seruca, Raquel; Melo, Soraia; Schmitt, Fernando; Roviello, Franco; De Scalzi, Ales... Journal: Journal of medical genetics Issue: Volume 55:Issue 7(2018) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Issue 5 (9th June 2020) Authors: Kimonis, Virginia; al Dubaisi, Rehab; Maclean, Andrew E; Hall, Kathy; Weiss, Lan; Stover, Alexander E; Schwartz, Philip H; Berg, Bethany; Cheng, Cheng; Parikh, Sumit; Conner, Blair R; Wu, Sitao; Hasso, Anton N; Scott, Daryl A; Koenig, Mary Kay; Karam, Rachid; Tang, Sha; Smith, Moyra; Chao, Elizab... Journal: Journal of medical genetics Issue: Volume 58:Issue 5(2021) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. Issue 31 (1st November 2021) Authors: Boddicker, Nicholas J.; Hu, Chunling; Weitzel, Jeffrey N.; Kraft, Peter; Nathanson, Katherine L.; Goldgar, David E.; Na, Jie; Huang, Hongyan; Gnanaolivu, Rohan D.; Larson, Nicole; Yussuf, Amal; Yao, Song; Vachon, Celine M.; Trentham-Dietz, Amy; Teras, Lauren; Taylor, Jack A.; Scott, Christopher E... Journal: Journal of clinical oncology Issue: Volume 39:Issue 31(2021) Page Start: 3430 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants. Issue 1 (25th January 2022) Authors: Lerner, Benjamin A; Xicola, Rosa M; Rodriguez, Nicolette J; Karam, Rachid; Llor, Xavier Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Issue 11 (11th October 2018) Authors: Lee, Kristy; Krempely, Kate; Roberts, Maegan E.; Anderson, Michael J.; Carneiro, Fatima; Chao, Elizabeth; Dixon, Katherine; Figueiredo, Joana; Ghosh, Rajarshi; Huntsman, David; Kaurah, Pardeep; Kesserwan, Chimene; Landrith, Tyler; Li, Shuwei; Mensenkamp, Arjen R.; Oliveira, Carla; Pardo, Carolina... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗