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Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms.
Published in:
British Journal of Haematology, 2023, v. 200, n. 4, p. 489, doi. 10.1111/bjh.18543
By:
- Shih, Andrew J.;
- Jun, Tomi;
- Skol, Andrew D.;
- Bao, Riyue;
- Huang, Lei;
- Vora, Sapana;
- McNerney, Megan E.;
- Hungate, Eric A.;
- Le Beau, Michelle M.;
- Larson, Richard A.;
- Elliott, Aaron;
- Lu, Hsiao‐Mei;
- Huether, Robert;
- Hernandez, Felicia;
- Stölzel, Friedrich;
- Allan, James M.;
- Onel, Kenan
Publication type:
Article
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Published in:
Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02839-z
By:
- Scott, Anthony;
- Hernandez, Felicia;
- Chamberlin, Adam;
- Smith, Cathy;
- Karam, Rachid;
- Kitzman, Jacob O.
Publication type:
Article
Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1581, doi. 10.1002/humu.23636
By:
- 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
Publication type:
Article
Classification of the canonical splice alteration MUTYH c.934-2A >G is likely benign based on RNA and clinical data.
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 1, p. 1, doi. 10.1101/mcs.a006152
By:
- Hernandez, Felicia;
- Conner, Blair R.;
- Richardson, Marcy E.;
- LaDuca, Holly;
- Chao, Elizabeth;
- Pesaran, Tina;
- Karam, Rachid
Publication type:
Article

Found: 4

Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms.

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.

Classification of the canonical splice alteration MUTYH c.934-2A >G is likely benign based on RNA and clinical data.