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A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay.

• Authors : Wang HQ; Department of Ophthalmology, the Second People's Hospital of Quzhou, Quzhou 324022, Zhejiang Province, China.; Cong PK

• Source: International journal of ophthalmology [Int J Ophthalmol] 2023 Oct 18; Vol. 16 (10), pp. 1595-1600. Date of Electronic Publication: 2023 Oct 18 (Print Publication: 2023).Publisher: Press of International Journal of Ophthalmology Country of Publication: China NLM ID: 101553860 Publication Model: eCollection Cited Medium:

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

• Authors : Cong PK; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.

Subjects: Asian People*/Asian People*/Asian People*/genetics ; Biological Specimen Banks*; China

• Source: Nature communications [Nat Commun] 2022 May 26; Vol. 13 (1), pp. 2939. Date of Electronic Publication: 2022 May 26.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

• Authors : Cong PK; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.

Subjects: Asian People*/Asian People*/Asian People*/genetics; China ; Humans

• Source: Clinical and translational medicine [Clin Transl Med] 2022 May; Vol. 12 (5), pp. e866.Publisher: Wiley Country of Publication: United States NLM ID: 101597971 Publication Model: Print Cited Medium: Internet ISSN: 2001-1326

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Observational and genetic evidence highlight the association of human sleep behaviors with the incidence of fracture.

• Authors : Qian Y; Diseases & Population Geninfo Lab, School of Life Sciences, Westlake University, 18 Shilongshan Road, Hangzhou, Zhejiang, 310024, China.; Westlake Laboratory of Life Sciences and Biomedicine, 18 Shilongshan Road, Xihu District, Hangzhou, 310024, Zhejiang, China.

Subjects: Sleep*; Fractures, Bone/Fractures, Bone/Fractures, Bone/*epidemiology ; Sleep Wake Disorders/Sleep Wake Disorders/Sleep Wake Disorders/*epidemiology

• Source: Communications biology [Commun Biol] 2021 Nov 26; Vol. 4 (1), pp. 1339. Date of Electronic Publication: 2021 Nov 26.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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Integrative analysis of genomic and epigenomic data reveal underlying superenhancer-mediated microRNA regulatory network for human bone mineral density.

• Authors : Bai WY; Fudan University, Shanghai 200433, China.; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Hangzhou 310024 Zhejiang, China.

Subjects: Enhancer Elements, Genetic* ; Epigenomics*/Epigenomics*/Epigenomics*/methods ; Gene Expression Regulation*

• Source: Human molecular genetics [Hum Mol Genet] 2021 Nov 01; Vol. 30 (22), pp. 2177-2189.Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN:

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Cohort profile: the Westlake BioBank for Chinese (WBBC) pilot project.

• Authors : Zhu XW; Diseases & Population (DaP) Geninfo Lab, School of Lifesciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.

Subjects: Biological Specimen Banks* ; Vitamin D Deficiency*; Adolescent

• Source: BMJ open [BMJ Open] 2021 Jun 28; Vol. 11 (6), pp. e045564. Date of Electronic Publication: 2021 Jun 28.Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN:

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Systemic evaluation of the relationship between psoriasis, psoriatic arthritis and osteoporosis: observational and Mendelian randomisation study.

• Authors : Xia J; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China.

Subjects: Antirheumatic Agents/Antirheumatic Agents/Antirheumatic Agents/*therapeutic use ; Bone Density/Bone Density/Bone Density/*drug effects ; Osteoporosis/Osteoporosis/Osteoporosis/*epidemiology

• Source: Annals of the rheumatic diseases [Ann Rheum Dis] 2020 Nov; Vol. 79 (11), pp. 1460-1467. Date of Electronic Publication: 2020 Jul 31.Publisher: BMJ Country of Publication: England NLM ID: 0372355 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2060

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Identification of PIEZO1 polymorphisms for human bone mineral density.

• Authors : Bai WY; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, 18 Shilongshan Road, Hangzhou 310024, China; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, 18 Shilongshan Road, Hangzhou 310024, China.

Subjects: Osteoporosis* ; Osteoporotic Fractures*; Animals

• Source: Bone [Bone] 2020 Apr; Vol. 133, pp. 115247. Date of Electronic Publication: 2020 Jan 20.Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Genotype imputation and reference panel: a systematic evaluation on haplotype size and diversity.

• Authors : Bai WY; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, 18 Shilongshan Road, Hangzhou 310024, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, 18 Shilongshan Road, Hangzhou 310024, China.

• Source: Briefings in bioinformatics [Brief Bioinform] 2019 Nov 06. Date of Electronic Publication: 2019 Nov 06.Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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