Margarita Sharova

Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?

Ekaterina Ignatova, M. Ivanov, V. Mileyko, 2022, Journal of the National Comprehensive Cancer Network : JNCCN.

Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene

A. Kurenkov, M. Skoblov, D. Guseva, 2022, American journal of medical genetics. Part A.

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

M. Skoblov, F. Konovalov, M. Ampleeva, 2022, Frontiers in Neurology.

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

M. Skoblov, A. Filatova, E. Dadali, 2020, BMC medical genetics.

Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles

A. Baranova, Ekaterina Ignatova, M. Ivanov, 2022, Journal of Translational Medicine.

Utility of public knowledge bases for the interpretation of comprehensive tumor molecular profiling results

M. Stepanova, F. Moiseenko, Ekaterina Ignatova, 2023, Clinical and Experimental Medicine.

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

A. Marakhonov, E. Dadali, O. Ryzhkova, 2023, Genes.

Incidental germline findings during molecular profiling of tumor tissues for precision oncology: molecular survey and methodological obstacles

A. Baranova, M. Ivanov, E. Rozhavskaya, 2022, Journal of Translational Medicine.