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. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy. Issue 10 (4th August 2021) Authors: Fortuno, Cristina; Pesaran, Tina; Dolinsky, Jill; Yussuf, Amal; McGoldrick, Kelly; Tavtigian, Sean V.; Goldgar, David; Spurdle, Amanda B.; James, Paul A. Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. Issue 10 (21st July 2021) Authors: Johnatty, Sharon E.; Pesaran, Tina; Dolinsky, Jill; Yussuf, Amal; LaDuca, Holly; James, Paul A.; O'Mara, Tracy A.; Spurdle, Amanda B. Journal: Human mutation Issue: Volume 42:Issue 10(2021) Page Start: 1265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53. Issue 3 (16th January 2020) Authors: Fortuno, Cristina; Pesaran, Tina; Dolinsky, Jill; Yussuf, Amal; McGoldrick, Kelly; Goldgar, David; James, Paul A.; Spurdle, Amanda B. Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Improved, ACMG‐compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Issue 8 (5th June 2018) Authors: Fortuno, Cristina; James, Paul A.; Young, Erin L.; Feng, Bing; Olivier, Magali; Pesaran, Tina; Tavtigian, Sean V.; Spurdle, Amanda B. Journal: Human mutation Issue: Volume 39:Issue 8(2018) Page Start: 1061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. (4th November 2020) Authors: Yadav, Siddhartha; LaDuca, Holly; Polley, Eric C; Hu, Chunling; Niguidula, Nancy; Shimelis, Hermela; Lilyquist, Jenna; Na, Jie; Lee, Kun Y; Gutierrez, Stephanie; Yussuf, Amal; Hart, Steven N; Davis, Brigette Tippin; Chao, Elizabeth C; Pesaran, Tina; Goldgar, David E; Dolinsky, Jill S; Couch, Ferg... Journal: Journal of the National Cancer Institute Issue: Volume 113:Number 10(2021) Page Start: 1429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. (4th November 2020) Authors: Yadav, Siddhartha; LaDuca, Holly; Polley, Eric C; Hu, Chunling; Niguidula, Nancy; Shimelis, Hermela; Lilyquist, Jenna; Na, Jie; Lee, Kun Y; Gutierrez, Stephanie; Yussuf, Amal; Hart, Steven N; Davis, Brigette Tippin; Chao, Elizabeth C; Pesaran, Tina; Goldgar, David E; Dolinsky, Jill S; Couch, Ferg... Journal: Journal of the National Cancer Institute Issue: Volume 113:Number 10(2021) Page Start: 1429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗