Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels

by Anna G. Shestak, Anna A. Bukaeva, Siamak Saber, Elena V. Zaklyazminskaya
Published 2021-02-01

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation

by Anna G. Shestak, Leonid M. Makarov, Vera N. Komoliatova, Irina V. Kolesnikova, Liubov O. Skorodumova, Edward V. Generozov, Elena V. Zaklyazminskaya
Published 2021-09-01

Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation

by Alexander M. Matyushenko, Victoria V. Nefedova, Anastasia M. Kochurova, Galina V. Kopylova, Natalia A. Koubassova, Anna G. Shestak, Daria S. Yampolskaya, Daniil V. Shchepkin, Sergey Y. Kleymenov, Natalia S. Ryabkova, Ivan A. Katrukha, Sergey Y. Bershitsky, Elena V. Zaklyazminskaya, Andrey K. Tsaturyan, Dmitrii I. Levitsky
Published 2023-08-01