Công bố khoa học năm 2022

Năm 2022, Viện Nghiên cứu hệ gen đã công bố được 53 công trình trên các tạp chí khoa học trong nước và quốc tế. Trong đó, có 25 công trình thuộc danh mục các tạp chí uy tín (SCIE IF≥1 hoặc Scopus CiteScore ≥2 hoặc SCImago Q2 trở lên).

I. Công trình công bố có chất lượng cao
1. Duong NT, Dinh TH, Möhl BS, Hintze S, Quynh DH, Ha DTT, Ngoc ND, Dung VC, Miyake N, Hai NV, Matsumoto N, Meinke P. Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants (2022) Aging (Albany NY) 14(13):5299-5310. doi: 10.18632/aging.204139.
2. Duc Minh Nguyen, Hong Lan Phan Nguyen, Tam Minh Nguyen, Genetic structure of the endemic (2022) Dipterocarpus condorensis revealed by microsatellite markers, AoB PLANTS. 14(2):plac007, https://doi.org/10.1093/aobpla/plac007.
3. Le HTT, Nguyen LN, Pham HLB, Le HTM, Luong TD, Huynh HTT, Nguyen VT, Nong HV, Teixidor-Toneu I, De Boer HJ, Manzanilla V. Target Capture Reveals the Complex Origin of Vietnamese Ginseng (2022) Front Plant Sci. 13:814178. doi: 10.3389/fpls.2022.814178.
4. Nguyen Thanh Binh, Nguyen Thi Kim Lien, Nguyen Thi Van Anh, Nguyen Thi Phuong Mai, Nguyen Thi Viet Ha, Dang Thuy Ha, Nguyen Van Tung, Nguyen Huy Hoang. Novel mutations in unrelated Vietnamese patients with chronic granulomatous disease (2022) Clinica Chimica Acta. 533: 114-121.
5. Nguyen Thi Kim Lien, Nguyen Thi Van Anh, Le Quynh Chi, Nguyen Ngoc Quynh Le, Thuc Thanh Huyen, Nguyen Thi Phuong Mai, Nguyen Van Tung, Nguyen Huy Hoang. Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients (2021) Clinical and Experimental Medicine. https://doi.org/10.1007/s10238-021-00774-0
6. Trang DT, Giang NH, Trang BK, Ngoc NT, Giang NV, Canh NX, Vuong NB, Xuan NT. Prevalence of CYLD mutations in Vietnamese patients with polycythemia vera (2022) Adv Clin Exp Med. 31(4):369-380. doi: 10.17219/acem/144027.
7. Ngo HN, Nguyen HQ, Phan TQ, Rödder D, Gewiss LR, Nguyen TQ, Ziegler T. First ecological assessment of the endangered Lichtenfelder’s Tiger Gecko (Goniurosaurus lichtenfelderi) from northern Vietnam: micro-habitat and macro-climatic niche comparisons between island and mainland populations (2022) Amphibia-Reptilia. 43(1), 77-91. doi: https://doi.org/10.1163/15685381-bja10083

II. CTCB trên tạp chí trong danh mục đánh giá quốc tế và đạt một trong số các tiêu chí SCIE (IF≥1), Scopus(Citescore ≥2) hoặc SCImago (Q2 trở lên)
1. Nhung VP, Ton ND, Ngoc TTB, Thuong MTH, Hai NTT, Oanh KTP, Hien LTT, Thach PN, Hai NV, Ha NH. Host Genetic Risk Factors Associated with COVID-19 Susceptibility and Severity in Vietnamese. (2022) Genes. 13(10):1884. https://doi.org/10.3390/genes13101884
2. Duong NT, Anh NP, Bac N, Le BQ, Noriko Miyake, Nong VH, Naomichi Matsumoto. Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome. (2022) Hum Genome Var. 21(9) https://doi.org/10.1038/s41439-022-00200-1
3. Duong NT, Anh LTL, Sau NH, Anh NB, Miyake N, Van Hai N, Matsumoto N. A rare homozygous missense mutation of COL7A1 in a Vietnamese family (2022) Hum Genome Var. 9(1):13. doi: 10.1038/s41439-022-00192-y
4. Linh NN, Hang PLB, Hue HTT, Ha NH, Hanh HH, Ton ND, Hien LTT. Species discrimination of novel chloroplast DNA barcodes and their application for identification of Panax (Aralioideae, Araliaceae). (2022) PhytoKeys. 188:1-18. doi: 10.3897/phytokeys.188.75937.
5. Ly HL, Hang LBP, Hue TTH, Linh NN, Trinh TV, Hien TTL. Differential expression of ginsenoside biosynthesis-related genes at an early developmental stage of Panax vietnamensis. (2022) Plant Biotechnol Rep. 16: 215–228. https://doi.org/10.1007/s11816-022-00751-3
6. Nguyen Pham Anh Hoa, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Nguyen Thi Phuong Mai, Nguyen Thi Mai Huong, Hoang Ngoc Thach, Nguyen Huy Hoang. (2022) Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure. Medicine. 101(2):e 28547.
7. Nguyen TH, Nguyen DQ, Kim LNT, Thi TNN, Nguyen TPM, Tran ND, Nguyen HH. Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome. (2022) Genes Genomics. doi: 10.1007/s13258-022-01249-6.
8. Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Ngoc Lan, Nguyen Thi Phuong Mai, Pham Thi Hai Yen, Nguyen Pham Anh Hoa, Nguyen Huy Hoang. The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients. (2021) Medicine. 100(47):e28011.
9. Thuan ND, Nhung VP, Dung HT, Son ND, Hai Ha N, Ton ND. Acute Extrapyramidal Side Effects Following Domperidone Intake in a 48-Year-Old Female Patient: The First Genetic Alteration and Drug Interaction Characterized. (2022) J Mov Disord. 15(2):193-195. doi: 10.14802/jmd.21151.
10. Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND. Genetic analyses of Vietnamese patients with oculocutaneous albinism. (2022) J Clin Lab Anal. 36(9):e24625. doi: 10.1002/jcla.24625.
11. Vu NP, Tran HT, Vu NB, Ma TTH, Nguyen TD, Nong HV, Nguyen HH. Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up. (2022) J Pediatr Endocrinol Metab.35(9):1206-1210. doi: 10.1515/jpem-2022-0208.
12. Hoa Thi Ninh, Tao Thien Nguyen, Huy Quoc Nguyen, Ngoc Van Hoang, Sonephet Siliyavong, Thinh Van Nguyen, Dzung Trung Le, Quyet Khac Le, Thomas Ziegler. A new species of mossy frog (Anura: Rhacophoridae) from Northeastern Vietnam. (2022) European Journal of Taxonomy. 794(1):72–90. doi: 10.5852/ejt.2022.794.1655.
13. Ngo HN, Nguyen HQ, Tran HM, Phan TQ, Tran TT, Gewiss LR, Rödder D, Nguyen TQ, Ziegler T. Living under the risk of extinction: population status and conservation needs assessment of a micro–endemic tiger gecko in Vietnam. (2022) Animal Biodiversity and Conservation. 45(2):175-188, https://doi.org/10.32800/abc.2022.45.0175.
14. Ngoc CTB, Dung VC, De Franco E, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Hoang NH, Dien TM. Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations. (2022) Front Endocrinol (Lausanne). 13:866573. doi: 10.3389/fendo.2022.866573
15. Pegler JL, Nguyen DQ, Oultram JMJ, Grof CPL, Eamens AL. Molecular Manipulation of the miR396 and miR399 Expression Modules Alters the Response of Arabidopsis thaliana to Phosphate Stress. (2021) Plants (Basel). 10(12):2570. doi: 10.3390/plants10122570.
16. Nguyen DT, Tran TTH, Tran MH, Tran K, Pham D, Duong NT, Nguyen Q, Vo NS. A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations. (2022) Sci Rep.12(1):17556. doi: 10.1038/s41598-022-22215-y.
17. N. B. Ananjeva, D. A. Gordeev, Nguyen Thien Tao, N. L. Orlov. Analysis of Urotomy and Regeneration in Agamid Lizards of the Genus Mantheyus (Reptilia: Sauria: Agamidae: Draconinae) Using X-ray Methods and a Computed Microtomography. (2022) Biology bulletin of the Russian Academy of Sciences. 49(4): 309-317. doi: 10.1134/S1062359022040033
18. Dat Thanh Nguyen, Quan Hoang Nguyen, Nguyen Thuy Duong, Nam S Vo, LmTag: functional-enrichment and imputation-aware tag SNP selection for population-specific genotyping arrays. (2022) Briefings in Bioinformatics. 23(4): bbac252, https://doi.org/10.1093/bib/bbac252

III. CTCB trên 7 tạp chí thuộc danh mục VAST2
1. Thuy Duong Nguyen, Thi Khanh Ly Nguyen, Thi Thu Ha Duong. Association of CFAP65 rs56411706 with male infertility in 393 Vietnamese individuals. (2022) Vietnam Journal of Science, Technology and Engineering. 64(2): 65-68. https://doi.org/10.31276/VJSTE.64(2).65-68
2. Nguyen Huu Hong Thu, Nguyen Thi Khanh Ly, Nguyen Tnuy Duong. A homozygous variant in G6PC in a Vietnamese patient with glycogen storage disease type Ia. (2022) Vietnam Journal of Biotechnology. 20(1):1–7. doi:https://doi.org/10.15625/1811-4989/17090.
3. Nguyen Thuy Duong, Tran Huu Dinh, Nong Van Hai. The association of CFAP65 with male infertility in Vietnamese individuals. (2022) Vietnam Journal of Biotechnology. 20(1): 9–14. https://doi.org/10.15625/1811-4989/16853.
4. Pham Quang Hung, Nguyen Xuan Canh, Nguyen Thuy Duong. Study on association between SLC2A9 rs3733591 and Gout susceptibility in 481 Vietnamese individuals. (2022) Vietnam Journal of Science and Technology. 64(1):39-42.
5. Nguyễn Thùy Dương, Nông Văn Hải, Lã Đức Duy. Khảo sát mối liên quan của đa hình DNAH1 rs12163565 với bệnh vô sinh nam ở người Việt Nam. (2022) Bản B của Tạp Chí Khoa học Và Công nghệ Việt Nam. 64(6). https://doi.org/10.31276/VJST.64(6).19-23
6. Dinh Huong Thao, Nong Van Hai, Nguyen Thuy Duong. Complete human mtDNA genome sequences revealed haplotype features of the Hmong-Mien language family in Vietnam. (2022) Academia Journal of Biology. 44(2): 21–28. https://doi.org/10.15625/2615-9023/17115
7. Nguyen Thuy Duong, La Duc Duy, Nong Van Hai. Association of rs142485241 with male infertility in 429 Vietnamese individuals. (2022) Academia Journal of Biology. 44(2): 73–78. https://doi.org/10.15625/2615-9023/16820.
8. Nguyen Thuy Duong, Dinh Huong Thao, Nguyen Thi Thao, Pham Van Anh, Miyake Noriko, Matsumoto Naomichi, Nong Van Hai. Identification of a mutation in a Vietnamese family with Emery-Dreifuss Muscular Dystrophy using whole exome sequencing. (2022) Academia Journal of Biology. 44(1): 33–41. https://doi.org/10.15625/2615-9023/16742.
9. Nguyen Phuong Anh, Nong Van Hai, Nguyen Thuy Duong. Correlation between AK7 rs2275554 and male infertility in 421 Vietnamese individuals.(2022) Academia Journal of Biology. 44(1): 107–114. https://doi.org/10.15625/2615-9023/16665.
10. Nguyen Thi Kim Lien, Nguyen Pham Anh Hoa, Nguyen Huy Hoang. Pediatric hepatobiliary disease: Genetic and clinical manifestations. (2021) Vietnam Journal of Biotechnology. 19(4): 589–606. https://doi.org/10.15625/1811-4989/15085.
11. Duong Anh Linh, Nguyen Thi Van Anh, Nguyen Van Tung, Nguyen Huy Hoang, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Ngo Manh Tien, Nguyen Thi Kim Lien. De novo mutations of ELANE gene in three Vietnamese patients with severe congenital neutropenia. (2022) Academia Journal of Biology. 44(3):77-85.
12. Nguyen Van Giang, Luu Han Ly, Pham Le Bich Hang, Le Thi Thu Hien. Isolation and characterization of a gene encoding farnesyl diphosphate synthase from Panax vietnamensis Ha et Grushv. (2021) Academia Journal of Biology. 43(4): 119–128. https://doi.org/10.15625/2615-9023/16356.
13. Nguyen Thi Kim Lien, Nguyen Thi Van Anh, Nguyen Van Tung, Duong Anh Linh, Nguyen Thi Phuong Mai, Nguyen Huy Hoang. Identification of the causative mutation in the ITGB2 gene in a LAD1 patient by whole exome sequencing. (2022) Vietnam Journal of Biotechnology. 20(2):213-218.
14. Duong Anh Linh, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Thi Van Anh, Nguyen Thi Phuong Mai, Ngo Manh Tien, Tran Thi My Hanh, Nguyen Huy Hoang. Whole-exome sequencing as a diagnostic tool for ipex syndrome. (2022) Academia Journal of Biology. 44(1): 53-60.
15. Huynh Thi Thu Hue, Dao Quang Ha, nguyen Thuy Duong. Characterizing and designing promoter of gene into plant expression vector. (2022) Academia Journal of Biology. 44(1): 83–92. https://doi.org/10.15625/2615-9023/15941.
16. Nguyen Thuy Duong, La Duc Duy, Duong Thu Ha. Study on the role of TDRD9 rs2273841 with male infertility of Vietnamese . (2021) Vietnam Journal of Biotechnology. 19(4): 619–624. https://doi.org/10.15625/1811-4989/17105.
17. Bui Minh Duc, Luong Thi Lan Anh, Nong Van Hai, Nguyen Thuy Duong. Association study of NR5A1 rs1110061 with infertile male in 401 Vietnamese individuals. (2021) Vietnam Journal of Biotechnology. 19(4):625–631. https://doi.org/10.15625/1811-4989/16358.
18. Pham Thi Minh Chau, Trinh Hong Anh, Luong Thi Lan Anh, Nguyen Thuy Duong, Nguyen Hai Ha. Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families. (2022) Vietnam Journal of Biotechnology. 20(2): 225–230. https://doi.org/10.15625/1811-4989/17000.
19. Bui Kieu Trang, Nguyen Thi Kim Lien, Nguyen Thi Xuan. Activation of SH2 domain-containing protein tyrosine phosphatase and inflammatory expression in psoriasis. (2022) Vietnam Journal of Biotechnology. 20(3):393–399. https://doi.org/10.15625/1811-4989/16664.
20. Nguyen Thanh Huyen, Nguyen Hoang Giang, Nguyen Thi Xuan. Expression of deubiquitinase genes and inflammatory response in myeloid leukemia. (2022) Vietnam Journal of Biotechnology. 20(3):401–408. https://doi.org/10.15625/1811-4989/16428.

IV. Công trình công bố trên tạp chí quốc tế khác
1. Duong HTT, Suzuki H, Katagiri S, Shibata M, Arai M, Yura K. Computational study of the impact of nucleotide variations on highly conserved proteins: In the case of actin. (2022) Biophys Physicobiol. 19:e190025. doi: 10.2142/biophysico.bppb-v19.0025.
2. Hai Ngoc Ngo, Huy Quoc Nguyen, Phan Quang Tien, Hieu Minh Tran, Truong Quang Nguyen, Mona van Schingen-Khan, Thomas Ziegler. Ecological niche overlap of two allopatric karst-adapted tiger geckos (Goniurosaurus) from northern Vietnam: microhabitat use and implications for conservation. (2022) Journal of Natural history. 56:37-40.
3. Ngoc-Lan Nguyen, Van Dung Vu, Van Tung Nguyen, Thi Kim Lien Nguyen, Huy Hoang Nguyen. Draft Genome Sequence of Marinobacter sp. Strain C7 Isolated from Seawater in Con Bung Coast, Vietnam. (2022) Microbiology Resource Announcements. 11(7): e00404-22.
4. Thi Thom Bui, Duc Quan Nguyen, Van Tung Nguyen, Ngoc Lan Nguyen, Thanh Hien Nguyen, Huy Hoang Nguyen. Investigation into the performance characteristics and genomic variations associated with the rumpless phenotype of the indigenous Cay Cum chickens (Gallus gallus L.). (2022) Livestock Research for Rural Development. 34: 07.
5. Ivan I. Kropachev, Alexey A. Evsyunin, Nikolai L. Orlov, Tao Thien Nguyen. A New Species of Rhacophorus Genus (Anura: Rhacophoridae: Rhacophorinae) from Lang Son Province, Northern Vietnam. (2022) Russian Journal of Herpetology. 29(1).
6. Nikolai L. Orlov, Pavel B. Snetkov, Oleg A. Ermakov, Tao Thien Nguyen, Natalia B. Ananjeva. Integrative Taxonomy Reveals a New Cryptic Species of Xenopeltis Gray, 1831 (Ophidia: Macrostomata: Pythonoidea: Xenopeltidae) from Central Highlands, Vietnam. (2022) Russian Journal of Herpetology. 29(4).
7. Hai Ngoc Ngo, Tan Van Nguyen, Tien Quang Phan, Truong Quang Nguyen, Thomas Ziegler. The herpetofauna of Hon Khoai Island, Ca Mau Province, Vietnam. (2022) Biodiversity Journal. 13(1):3-17.
8. Thanh Vinh Nguyen, Chung Van Hoang, Jiang Jianping, Nikolai L. Orlov, Hoa Thi Ninh, Huy Quoc Nguyen, Tao Thien Nguyen, Thomas Ziegler. A New Species of Vietnamophryne with an Extended Description of Vietnamophryne orlovi. Russian Journal of Herpetology. 28(6).