Mikhail Y. Skoblov

The Russian FSHD registry: a first look at the cohort

The paper describes the Russian FSHD registry, analyzing clinical and genetic data to identify disease trajectories and demographic patterns in a national cohort.

Induction of osteogenic differentiation of MSCs by GSK3beta knockdown through GSK3beta siRNAs transfection

This study demonstrates that GSK3β knockdown using siRNAs induces osteogenic differentiation of human adipose-derived MSCs through effective transfection with PEI.

Revision of splicing variants in the DMD gene

The paper identifies and validates splicing variants in the DMD gene, showing most intronic variants affect splicing and many exonic variants disrupt splicing, with clinical implications for Duchenne and Becker muscular dystrophy.

Comprehensive analysis of human microRNA-mRNA interactome

The paper analyzes human microRNA-mRNA interactions using experimental data and identifies patterns of regulation and context-dependent behavior.

Putting hands to rest: efficient deep CNN-RNN architecture for chemical named entity recognition with no hand-crafted rules.

The paper develops a deep CNN-RNN model for chemical named entity recognition without hand-crafted rules, achieving near human-level performance on the CHEMDNER corpus.

Generalising Better: Applying Deep Learning To Integrate Deleteriousness Prediction Scores For Whole-Exome SNV Studies

This paper explores using deep learning to improve the integration of deleteriousness prediction scores for whole-exome SNV studies, showing that simple neural networks can enhance prediction accuracy and coverage.