Artem A. Sharkov

Moscow, MOW 125412, Russian Federation

Last Updated: 09/26/2026

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Found 18 publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

Journal: Brain : a journal of neurology

Published: February 10, 2026

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.

Journal: Frontiers in genetics

Published: July 21, 2025

Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.

Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.

Journal: Epilepsia

Published: January 12, 2025

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

Journal: Neurogenetics

Published: December 30, 2024

Missense mutation causes multiple defects in Nav1.4 channel gating and leads to an SCN4A-associated overlap phenotype.

Missense mutation causes multiple defects in Nav1.4 channel gating and leads to an SCN4A-associated overlap phenotype.

Journal: The Journal of general physiology

Published: October 15, 2024

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.

The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction.

Journal: EBioMedicine

Published: August 27, 2024

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation.

Case report: Adult patient with WWOX developmental and epileptic encephalopathy: 40 years of observation.

Journal: Frontiers in genetics

Published: August 07, 2024

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.

Journal: Frontiers in pediatrics

Published: August 20, 2023

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Journal: Human mutation

Published: June 09, 2023

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene.

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene.

Journal: Frontiers in genetics

Published: March 02, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026