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Mikhailova A.A.
, Bogomiagkova E.S.
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, Illarionov R.A.
, Danilova M.M.
, Tonyan Z.N.
, Chernykh V.B.
, Kovalenko L.V.
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Healthcare professionals and scientists’ collaboration with biobanks: a pilot study on the assessment of knowledge and attitudes toward biospecimen donation
Frontiers in Medicine. 2025.
V.12. DOI: 10.3389/fmed.2025.1497209
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2
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Tonyan Z.N.
, Nasykhova Y.A.
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, Shabanova E.S.
, Bespalova O.N.
, Kogan I.Y.
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Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
Egyptian Journal of Medical Human Genetics. 2025.
V.26. N1. P.1-9. DOI: 10.1186/s43042-025-00649-z
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3
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Fedotov S.A.
, Khrabrova M.S.
, Vashukova E.S.
, Glotov A.S.
, Anpilova A.O.
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Diagnostics of preeclampsia based on Congo red binding to urinary components: Rationales and limitations
PLOS ONE. 2024.
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4
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Maksiutenko E.M.
, Merkureva V.
, Barbitoff Y.A.
, Tsay V.V.
, Aseev M.V.
, Glotov A.S.
, Glotov O.S.
Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure
Physiological Reports. 2024.
V.12. N8. DOI: 10.14814/phy2.16015
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5
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Maretina M.
, Koroleva V.
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The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era
Biomedicines. 2024.
V.12. N11. 2486
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6
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Lazareva T.E.
, Barbitoff Y.A.
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, Glotov A.S.
Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis
Journal of Personalized Medicine. 2024.
V.14. N8. 864
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7
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Tkachenko A.A.
, Changalidis A.I.
, Maksiutenko E.M.
, Nasykhova Y.A.
, Barbitoff Y.A.
, Glotov A.S.
Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen
Genes. 2024.
V.15. N7. 931
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8
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Osinovskaya N.
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, Tarasenko O.
, Danilova M.
, Glavnova O.
, Sultanov I.
, Donnikov M.
, Nasykhova Y.
, Glotov A.
Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS)
Egyptian Journal of Medical Human Genetics. 2024.
V.25. N1. DOI: 10.1186/s43042-024-00502-9
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9
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Popova A.K.
, Vashukova E.S.
, Illarionov R.A.
, Maltseva A.R.
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, Postnikova T.B.
, Glotov A.S.
Extracellular Vesicles as Biomarkers of Pregnancy Complications
International Journal of Molecular Sciences. 2024.
V.25. N22. 11944
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10
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Korf E.A.
, Novozhilov A.V.
, Mindukshev I.V.
, Glotov A.S.
, Kudryavtsev I.V.
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, Dobrylko I.A.
, Voitenko N.G.
, Voronina P.A.
, Habeeb S.
, Ghanem A.
, Osinovskaya N.S.
, Serebryakova M.K.
, Krivorotov D.V.
, Jenkins R.O.
, Goncharov N.V.
Testing Green Tea Extract and Ammonium Salts as Stimulants of Physical Performance in a Forced Swimming Rat Experimental Model
International Journal of Molecular Sciences. 2024.
V.25. N19. 10438
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11
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Sukhikh S.G.T.
, Trofimov T.D.Y.
, Barkov B.I.Y.
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, Baranova B.E.E.
, Glotov G.A.S.
, Kalashnikova K.E.A.
, Olenev O.A.S.
, Tetruashvili T.N.K.
, Mikhailov M.A.V.
, Koroteev K.A.L.
, Rudnik R.A.Y.
, Apalko A.S.V.
, Bolshakova B.A.S.
, Lebedev L.I.N.
, Skryabin S.N.A.
, Vashukova V.E.S.
, Goltsov G.A.Y.
, Mukosei M.I.S.
, Kochetkova K.T.O.
, Dokshukina D.A.A.
, Zaretskaya Z.N.V.
, Karetnikova K.N.A.
, Zhuchenko Z.L.A.
, Grin G.O.S.
, Izhevskaya I.V.L.
METHODOLOGICAL RECOMMENDATIONS «NONINVASIVE PRENATAL SCREENING (NIPS) FOR FETAL ANEUPLOIDIES IN MATERNAL BLOOD BY HIGH-THROUGHPUT SEQUENCING (NGS)»
Акушерство и гинекология. 2024.
V.3-prilojenie_2024. P.4-24. DOI: 10.18565/aig.2024.51
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12
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Sukhikh S.G.T.
, Trofimov T.D.Y.
, Shubina S.J.
, Degtyarev D.D.N.
, Maslennikov M.D.N.
, Mukosei M.I.S.
, Kochetkova K.T.O.
, Tolmacheva T.E.R.
, Sadelov S.I.O.
, Bolshakova B.A.S.
, Barkov B.I.Y.
, Ryzhkova R.O.P.
, Khmelkova K.D.N.
, Musatova M.E.V.
, Zobkova Z.G.Y.
, Smirnova S.A.V.
, Molodtsova-Zolotukhina M-Z.D.V.
, Lebedev L.I.N.
, Kudryavtseva K.E.V.
, Glotov G.A.S.
, Zabnenkova Z.V.V.
, Grin G.O.S.
, Nekoteneva N.M.V.
, Ponomareva P.D.V.
, Kubyshkin K.A.V.
METHODOLOGICAL RECOMMENDATIONS «USE OF PRENATAL HIGH-THROUGHPUT SEQUENCING AND MICROARRAY-BASED MOLECULAR KARYOTYPING»
Акушерство и гинекология. 2024.
V.3-prilojenie_2024. P.25-43. DOI: 10.18565/aig.2024.52
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13
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Малышева О.В.
, Вашукова Е.С.
, Кольцова А.С.
, Ефимова О.А.
, Пендина А.А.
, Чиряева О.Г.
, Шабанова Е.С.
, Беспалова О.Н.
, Глотов А.С.
, Талантова О.Е.
Эмбриональный мозаицизм как причина ошибок и дискордантных результатов пренатальной диагностики хромосомных болезней
Медицинская генетика. 2024.
Т.23. №9. С.38-48. DOI: 10.25557/2073-7998.2024.09.38-48
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14
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Zagaynova V.A.
, Nasykhova Y.A.
, Tonyan Z.N.
, Danilova M.M.
, Dvoynova N.M.
, Lazareva T.E.
, Ivashchenko T.E.
, Shabanova E.S.
, Krikheli I.O.
, Lesik E.A.
, Bespalova O.N.
, Kogan I.Y.
, Glotov A.S.
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
Frontiers in Genetics. 2024.
V.15. P.1344051. DOI: 10.3389/fgene.2024.1344051
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15
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Kiselev A.
, Maretina M.
, Shtykalova S.
, Al-Hilal H.
, Maslyanyuk N.
, Plokhih M.
, Serebryakova E.
, Frolova M.
, Shved N.
, Krylova N.
, Il’ina A.
, Freund S.
, Osinovskaya N.
, Sultanov I.
, Egorova A.
, Lobenskaya A.
, Koroteev A.
, Sosnina I.
, Gorelik Y.
, Bespalova O.
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, Glotov A.
Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg
International Journal of Neonatal Screening. 2024.
V.10. N1. 9
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16
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Barbitoff Y.A.
, Ushakov M.O.
, Lazareva T.E.
, Nasykhova Y.A.
, Glotov A.S.
, Predeus A.V.
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
BRIEFINGS IN BIOINFORMATICS. 2024.
V.25. N2. DOI: 10.1093/bib/bbad508
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17
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Tonyan Z.N.
, Puppo I.L.
, Saifitdinova A.F.
, Vavilova T.V.
, Glotov A.S.
Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers
Molecular Cytogenetics. 2024.
V.18. P.1-13. DOI: 10.3897/compcytogen.18.115070
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18
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Михайлова А.А.
, Насыхова Ю.А.
, Коган И.Ю.
, Глотов А.С.
ПРОБЛЕМЫ И ПЕРСПЕКТИВЫ РАЗВИТИЯ БИОБАНКОВ: ДОВЕРИЕ ИЛИ НАСТОРОЖЕННОСТЬ В НАУЧНОМ И МЕДИЦИНСКОМ СООБЩЕСТВЕ
LEX GENETICA. 2024.
Т.3. №4. С.7-24. DOI: 10.17803/lexgen-2024-3-4-7-24
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19
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Лазарева Т.Е.
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, Вашукова Е.С.
, Насыхова Ю.А.
, Глотов А.С.
, Беспалова О.Н.
, Коган И.Ю.
In silico исследование спектра ассоциированных с преэклампсией генетических вариантов в российской популяции
Медицинская генетика. 2024.
Т.23. №11. С.47-54. DOI: 10.25557/2073-7998.2024.11.47-54
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20
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Осиновская Н.С.
, Абашова Е.И.
, Ярмолинская М.И.
, Бредгауэр М.Д.
, Султанов И.Ю.
, Насыхова Ю.А.
, Глотов А.С.
Особенности полиморфизма генов, вовлеченных в регуляцию метаболизма глюкозы и синтеза стероидных гормонов у пациенток с синдромом поликистозных яичников
Журнал акушерства и женских болезней. 2024.
Т.73. №6. С.128-141. DOI: 10.17816/jowd636260
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