Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay

by Nirmala Sirisena, Kajal Biswas, Teresa Sullivan, Stacey Stauffer, Linda Cleveland, Eileen Southon, Vajira H. W. Dissanayake, Shyam K. Sharan
Published 2020-05-01

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays

by Kajal Biswas, Gary B. Lipton, Stacey Stauffer, Teresa Sullivan, Linda Cleveland, Eileen Southon, Susan Reid, Valentin Magidson, Edwin S. Iversen, Shyam K. Sharan
Published 2020-12-01

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

by Pankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K. Sharan, Ami Mankodi
Published 2021-03-01

A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing

by Kajal Biswas, Martin Couillard, Luca Cavallone, Sandra Burkett, Stacey Stauffer, Betty K. Martin, Eileen Southon, Susan Reid, Teri M. Plona, Ryan N. Baugher, Stephanie D. Mellott, Kristen M. Pike, Mary E. Albaugh, Chelsea Maedler-Kron, Nancy Hamel, Lino Tessarollo, Victoria Marcus, William D. Foulkes, Shyam K. Sharan
Published 2021-09-01

Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies

by Xia Ding, Arnab Ray Chaudhuri, Elsa Callen, Yan Pang, Kajal Biswas, Kimberly D. Klarmann, Betty K. Martin, Sandra Burkett, Linda Cleveland, Stacey Stauffer, Teresa Sullivan, Aashish Dewan, Hanna Marks, Anthony T. Tubbs, Nancy Wong, Eugen Buehler, Keiko Akagi, Scott E. Martin, Jonathan R. Keller, André Nussenzweig, Shyam K. Sharan
Published 2016-08-01