Jekaterina Shubina
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
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Found 14 publications
STAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in Russian patients with early-onset premature ovarian insufficiency.
Journal: Journal of assisted reproduction and genetics
Published: April 02, 2026
Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.
Journal: Human genomics
Published: October 29, 2025
Novel variants associated with premature ovarian insufficiency in Russian adolescents.
Journal: Frontiers in endocrinology
Published: August 16, 2025
Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rate.
Journal: Journal of assisted reproduction and genetics
Published: October 08, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Journal: HGG advances
Published: February 15, 2024
De novo start-loss variant in HIRA in patient with DiGeorge-like syndrome.
Journal: Clinical genetics
Published: December 27, 2023
Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.
Journal: BMC medical genomics
Published: September 26, 2023
Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.
Journal: Current pediatric reviews
Published: June 21, 2023
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.
Journal: Journal of clinical pathology
Published: May 25, 2023
De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.
Journal: Genes
Published: December 31, 2022
Familial Predisposition to Leiomyomata: Searching for Protective Genetic Factors.
Journal: Biomedicines
Published: December 23, 2021
Last Updated: 09/26/2026