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Irina Efimova

Observed names: E. Yu. Efimova, Efimova , Irina Yu., I Yu Efimova, I. I. Efimova, I. Yu. Efimova, I.U. Efimova, I.Yu. Efimova, Irina I. Efimova, Irina Yu. Efimova, Ефимова, И.Ю.
ORCID: 0000-0003-4672-1447
Observed ORCID: 0000-0003-4672-1447
OpenAlex ID: A5064746174
Advanced neonatal screening for hereditary diseases in Russia: first results and future prospects
2024 · S.V. Voronin, E.Yu. Zakharova, et al. · PEDIATRIA Journal named after G N SPERANSKY · 30
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
2024 · Andrey V. Marakhonov, Irina Yu. Efimova, et al. · Journal of Clinical Immunology · 27
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
2024 · Irina Yu. Efimova, Rena A. Zinchenko, et al. · Pediatric Neurology · 12
Decreased TREC and KREC levels in newborns with trisomy 21
2024 · Andrey Marakhonov, Anna Mukhina, et al. · Frontiers in Pediatrics · 6
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Neonatal Screening, Postnatal Diagnosis and Tactics of Preclinical Treatment and Prevention of Primary Immunodeficiencies in Children. Guidelines by the Experts From the National Association of Experts in Primary Immunodeficiencies (naepid) and the Association of Medical Genetics (amg) of Russia
2023 · S.V. Voronin, R.A. Zinchenko, et al. · PEDIATRIA Journal named after G N SPERANSKY · 6
Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome
2022 · E. Yu. Efimova, A. A. Mukhina, et al. · Pediatric Hematology/Oncology and Immunopathology · 5
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First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia
2026 · Andrey Marakhonov, Anna Mukhina, et al. · Frontiers in Immunology · 4
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Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines
2025 · Anastasiia Danishevich, Daria Fedorova, et al. · Hereditary Cancer in Clinical Practice · 4
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A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC
2024 · Andrey Marakhonov, Elena Serebryakova, et al. · International Journal of Molecular Sciences · 4
Aberrant Methylation of the Promoter of Apc, Cdh13 and Mgmt Genes in Colorectal Cancer Patients
2016 · O. I. Kit, D. I. Vodolazhskiy, et al. · Siberian Journal of Oncology · 4
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13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies
2025 · Irina Efimova, Anna Mukhina, et al. · International Journal of Molecular Sciences · 3
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Harmonizing TREC Thresholds in Newborn Screening for SCID : Insights From Russian Validation Cohort
2025 · Andrey Marakhonov, Ekaterina Kalinina, et al. · Journal of Clinical Laboratory Analysis · 3
Routing improvement in the expanded neonatal screening system for primary immunodeficiencies diagnosis
2024 · A.V. Marakhonov, A.A. Mukhina, et al. · PEDIATRIA Journal named after G N SPERANSKY · 1
Familial adenomatosis of the colon: current state of the problem
2018 · O I Kit, Yu A Gevorkyan, et al. · Terapevticheskii arkhiv · 1
Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates
2026 · Andrey Marakhonov, Anna Mukhina, et al. · International Journal of Neonatal Screening
Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family
2026 · Anastasia Bobreshova, Irina Efimova, et al. · Molecular Syndromology
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Популяционная распространенность тяжелых первичных иммунодефицитов Т- и В-клеток на основании ретроспективного скрининга новорожденных 2021 года Удмуртской Республики
2026 · Балинова, Н.В., Марахонов, А.В., et al. · National repository of research data in engineering
Identification of a spectrum of germline mutations for hereditary diffuse gastric cancer in the Russian population by next-generation sequencing
2019 · I.U. Efimova, E. Ignatova, et al. · Annals of Oncology
Germline mutation of the APC gene with classic form of familial adenomatous polyposis.
2018 · Irina Yu. Efimova, Oleg I. Kit, et al. · Journal of Clinical Oncology
Cpg-methylation of the Promoter Apc, Cdh13, Mlh1, Mgmt, P16, Rassf1a Genes in Colorectal Cancer Patients
2017 · Petrusenko , Natalya A., Nikolaeva , Nadezhda V., et al. · IZVESTIYA VUZOV SEVERO-KAVKAZSKII REGION NATURAL SCIENCE (IVSKRNS)
Association between braf gene mutation status and clinical-morphological features of cutaneous melanoma
2016 · O. I. Kit, D. I. Vodolazhsky, et al. · DOAJ (DOAJ: Directory of Open Access Journals)
Association between promoter hypermethylation of APC, CDH13, MLH1 and MGMT genes and colorectal cancer metastasis.
2016 · Oleg Ivanovich Kit, Dmitry I. Vodolazhsky, et al. · Journal of Clinical Oncology
Microsatellite Instability as a Molecular Genetic Marker of Defective Mismatch Repair System in Esophageal Cancer
2016 · О. I. Kit, D. I. Vodolazhsky, et al. · Siberian Journal of Oncology
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Works count: 23
Citation count: 110
H-index: 5
I10-index: 3
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