Sergey I Kutsev - Laboratory of Molecular Biology, Research Centre for Medical Genetics

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An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, P.(asn114ser)

Tatyana A. Vasilyeva,Natella V. Sukhanova, Olga V. Khalanskaya,Andrey V. Marakhonov,Nikolai S. Prokhorov,Vitaly V. Kadyshev,Nikolay A. Skryabin,Sergey I. Kutsev,Rena A. Zinchenko

CURRENT ISSUES IN MOLECULAR BIOLOGYno. 1 (2024): 96-105

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A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa

Natalya Ogorodova,Anna Stepanova,Vitaly Kadyshev, Svetlana Kuznetsova, Olga Ismagilova,Alena Chukhrova,Aleksandr Polyakov,Sergey Kutsev,Olga Shchagina

International journal of molecular sciencesno. 22 (2024)

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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

Inna S. Tebieva, Polina V. Mishakova,Yulia V. Gabisova, Alana V. Khokhova, Tamara G. Kaloeva,Andrey V. Marakhonov,Olga A. Shchagina,Alexander V. Polyakov,Evgeny K. Ginter,Sergey I. Kutsev,Rena A. Zinchenko

International Journal of Molecular Sciences（2024）

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Expanding the Spectrum of Clinical and Genetic Characteristics of Distal Arthrogryposis Type 5 Caused by Heterozygous Variants in the PIEZO2 Gene

E. L. Dadali,T. V. Markova,E. A. Melnik,S. S. Nikitin,I. V. Sharkova,O. V. Khalanskaya, L. A. Bessonov,E. A. Shestopalova,O. P. Ryzhkova,S. I. Trofimova,O. E. Agranovich,S. I. Kutsev

Нервно-мышечные болезниno. 2 (2024)

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A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

Andrey Marakhonov,Elena Serebryakova,Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova,Natalia Balinova, Anastasia Lobenskaya,Tatyana Vasilyeva,Victoria Zabnenkova,Oxana Ryzhkova,Yulia Rodina,Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva,Alexander Koroteev,Rena Zinchenko, Sergey Voronin,Anna Shcherbina,Sergey Kutsev

International journal of molecular sciencesno. 19 (2024)

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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

Journal of Clinical Immunologyno. 4 (2024): 1-9

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Study of the Genetic and Molecular Epidemiology of Cystic Fibrosis Based on the Patient Registry for Planning Targeted Therapy in Russian Federation

Elena Kondratyeva,Yuliya Melyanovskaya, Victoriya Sherman,Anna Voronkova,Elena Zhekaite,Stanislav Krasovsky,Elena Amelina,Nataliya Kashirskaya, Vera Shadrina,Alexander Polyakov,Tagui Adyan, Olga Sсhagina,Marina Starinova, Elena Enina,Andrey Vasilyev,Andrey Marakhonov,Rena Zinchenko,Sergey Kutsev

Frontiers in genetics（2024）

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Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene

E. V. Kondrateva, O. V. Grigorieva, E. V. Kurshakova,I. O. Panchuk, V. O. Pozhitnova,E. S. Voronina,V. Yu. Tabakov,I. P. Nikishina,S. V. Arsenyeva,V. G. Matkava,A. V. Lavrov,S. A. Smirnikhina,S. I. Kutsev

Russian Journal of Developmental Biologyno. 1 (2024): 34-38

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Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome

Anastasia M. Bobreshova,Sofya A. Ionova,Vitaly V. Kadyshev,Natella V. Sukhanova,Iuliia V. Viakhireva,Alexandra Yu. Filatova,Natalia V. Zhurkova,Peter A. Sparber,Andrey V. Marakhonov,Tatyana A. Vasilyeva,Olga A. Shchagina,Sergey I. Kutsev,Rena A. Zinchenko

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 20 (2024)

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Common Variants in the TYR Gene with Unclear Pathogenicity As the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients

Olga Shchagina,Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev,Nina Demina,Ludmila Bessonova,Sofya Ionova,Daria Guseva,Andrey Marakhonov,Rena Zinchenko,Sergey Kutsev,Aleksander Polyakov

BIOMEDICINESno. 10 (2024)

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