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Lijie Song
Lijie Song
BGI
在 bgi.com 的电子邮件经过验证
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引用次数
引用次数
年份
Endothelialization and patency of RGD-functionalized vascular grafts in a rabbit carotid artery model
W Zheng, Z Wang, L Song, Q Zhao, J Zhang, D Li, S Wang, J Han, ...
Biomaterials 33 (10), 2880-2891, 2012
3362012
Polysaccharide-based biomaterials with on-demand nitric oxide releasing property regulated by enzyme catalysis
Q Zhao, J Zhang, L Song, Q Ji, Y Yao, Y Cui, J Shen, PG Wang, D Kong
Biomaterials 34 (33), 8450-8458, 2013
1182013
Surface-induced hydrogelation inhibits platelet aggregation
W Zheng, J Gao, L Song, C Chen, D Guan, Z Wang, Z Li, D Kong, Z Yang
Journal of the American Chemical Society 135 (1), 266-271, 2013
832013
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
Y Liu, Asan, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, X Xing, ...
Osteoporosis International 28, 2985-2995, 2017
682017
Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta
F Lv, X Xu, J Wang, Y Liu, J Wang, L Song, Y Song, Y Jiang, O Wang, ...
Journal of human genetics 61 (6), 539-545, 2016
392016
Clinical application of whole‐genome low‐coverage next‐generation sequencing to detect and characterize balanced chromosomal translocations
D Liang, Y Wang, X Ji, H Hu, J Zhang, L Meng, Y Lin, D Ma, T Jiang, ...
Clinical Genetics 91 (4), 605-610, 2017
362017
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss
H Wang, Y Zhao, Y Yi, Y Gao, Q Liu, D Wang, Q Li, L Lan, N Li, J Guan, ...
PloS one 9 (8), e103133, 2014
362014
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
Y Sun, F Liu, C Fan, Y Wang, L Song, Z Fang, R Han, Z Wang, X Wang, ...
BMC medical genomics 14, 1-13, 2021
332021
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI
J Wang, Y Liu, L Song, F Lv, X Xu, A San, J Wang, H Yang, Z Yang, ...
Calcified tissue international 100, 55-66, 2017
222017
Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations
Y Liu, L Song, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, Y Song, ...
Clinica Chimica Acta 461, 172-180, 2016
212016
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid
X Xu, F Lv, Y Liu, J Wang, D Ma, J Wang, L Song, Y Jiang, O Wang, W Xia, ...
Journal of human genetics 62 (2), 205-211, 2017
122017
Performance characterization of PCR-free whole genome sequencing for clinical diagnosis
G Zhou, M Zhou, F Zeng, N Zhang, Y Sun, Z Qiao, X Guo, S Zhou, G Yun, ...
Medicine 101 (10), e28972, 2022
92022
AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs
C Fan, Z Wang, Y Sun, J Sun, X Liu, L Kang, Y Xu, M Yang, W Dai, L Song, ...
BMC genomics 22, 1-12, 2021
92021
Enhanced specificity of Bacillus metataxonomics using a tuf-targeted amplicon sequencing approach
X Xu, LJD Nielsen, L Song, G Maróti, ML Strube, ÁT Kovács
ISME communications 3 (1), 126, 2023
52023
A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta
X Xu, F Lv, Y Liu, J Wang, Y Song, J Wang, L Song, Y Jiang, O Wang, ...
Clinica Chimica Acta 460, 33-39, 2016
52016
Validation and depth evaluation of low-pass genome sequencing in prenatal diagnosis using 387 amniotic fluid samples
Y Qian, Y Sun, X Guo, L Song, Y Sun, X Gao, B Liu, Y Xu, N Chen, ...
Journal of Medical Genetics 60 (10), 933-938, 2023
42023
Test development, optimization and validation of a WGS pipeline for genetic disorders
Z Yang, X Yang, Y Sun, Y Wang, L Song, Z Qiao, Z Fang, Z Wang, L Liu, ...
BMC Medical Genomics 16 (1), 74, 2023
32023
Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth
F Tang, Z Wang, Y Sun, L Fan, Y Yang, X Guo, Y Wang, S Yan, Z Qiao, ...
BMC genomics 25 (1), 470, 2024
12024
Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs
Y Liu, S Hao, X Guo, L Fan, Z Qiao, Y Wang, X Wang, J Man, L Wang, ...
BMC Medical Genomics 16 (1), 294, 2023
12023
Characterization of genomic clones by targeted deep sequencing of ctDNA to monitor liver cancer
Y Sun, X Kong, J Yu, X Zheng, M Lin, Z Cheng, H Wang, N An, Y Xie, ...
Translational cancer research 10 (10), 4387, 2021
12021
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