1 |
Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum [J]. Lancet, 1997,350(9076):485-487.
|
2 |
Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis [J]. Am J Hum Genet, 1998,62(4):768-775.
|
3 |
Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma [J]. Proc Nat Acad Sci, 2008, 105(51):20458-20463.
|
4 |
赖允丽,陈筠,易升, 等. 无创产前检测的临床应用及随访研究 [J]. 重庆医学, 2016,45(11):1491-1495.
|
5 |
Serratì S, De Summa S, Pilato B, et al. Next-generation sequencing: advances and applications in cancer diagnosis [J]. Onco Targets Ther, 2016,9:7355-7365.
|
6 |
Akram M, Iqbal M, Daniyal M, et al. Awareness and current knowledge of breast cancer [J]. Biol Res, 2017,50(1):33.
|
7 |
Cheng L, Lopez-Beltran A, Massari F, et al. Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine[J]. Mod Pathol, 2018,31(1):24-38.
|
8 |
Lindeman NI, Cagle PT, Beasley MB, et al. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology[J]. J Thorac Oncol, 2013, 8(7):823-859.
|
9 |
Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes[J]. Am J Gastroenterol, 2015,110(2):223-263.
|
10 |
Jennings L J, Arcila M E, Corless C, et al. Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists[J]. J Mol Diagn, 2017,19(3):341-365.
|
11 |
Rossen JWA, Friedrich AW, Moran-Gilad J, et al. Practical issues in implementing whole-genome-sequencing in routine diagnostic microbiology[J]. Clin Microbiol Infect, 2018,24(4):355-360
|
12 |
McGann P, Bunin JL, Snesrud E, et al. Real time application of whole genome sequencing for outbreak investigation–what is an achievable turnaround time[J]? Diagn Microbiol Infect Dis, 2016,85 (3):277-282.
|
13 |
Nijhuis RH, Oueslati S, Zhou K, et al. OXY-2-15, a novel variant showing increased ceftazidime hydrolytic activity[J]. J Antimicrob Chemother, 2015,70(5):1429-1433.
|
14 |
Ferdous M, Kooistra-Smid AM, Zhou K, et al. Virulence, Antimicrobial Resistance Properties and Phylogenetic Background of Non-H7 Enteropathogenic Escherichia coli O157[J]. Front Microbiol, 2016, 7:1540.
|
15 |
Sabat AJ, van Zanten E, Akkerboom V, et al. Targeted next-generation sequencing of the 16S-23S rRNA region for culture-independent bacterial identification-increased discrimination of closely related species [J]. Sci Rep, 2017,7(1):3434.
|
16 |
Liu H, Gao Y, Hu Z, et al. Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNA [J]. PLoS One, 2016,11(7):e0159233.
|
17 |
Stavropoulos DJ, Merico D, Jobling R, et al. Whole-Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in _Paediatric Medicine[J]. NPJ Genom Med, 2016, 1.pii:15012.
|
18 |
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Zie-gelbein EA, Wang DH, Azaiez H, Smith RJH. Compre-hensive genetic testing in the clinical evaluation of 1119 patients with hearing loss[J]. Hum Genet, 2016,135(4):441-450.
|
19 |
Drew AP, Zhu D, Kidambi A, et al. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing[J]. Mol Genet Genomic Med, 2015,3(2):143-154.
|
20 |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015,17(5): 405-424.
|
21 |
Mahdi BM. A glow of HLA typing in organ transplantation[J]. Clin Translat Med, 2013,2(1):6.
|
22 |
Vogiatzi P. Some considerations on the current debate about typing resolution in solid organ transplantation[J]. Transplantat Res, 2016,5:3.
|
23 |
Romero R, Mahoney MJ. Noninvasive Prenatal Testing and Detection of Maternal Cancer [J]. JAMA, 2015,314(2):131-133.
|
24 |
Bianchi DW, Chudova D, Sehnert AJ, et al. Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies[J]. JAMA, 2015,314(2):162-169.
|
25 |
Amant F, Verheecke M, Wlodarska I, et al. Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing[J]. JAMA Oncol, 2015,1(6):814-819.
|
26 |
Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics[J]. Genet Med, 2016,18(10):1056-1065.
|
27 |
Skirton H, Goldsmith L, Jackson L, et al. Offering prenatal diagnostic tests: European guidelines for clinical practice(corrected)[J]. Eur J Hum Genet, 2014,22(5):580-586.
|
28 |
Deans ZC, Allen S, Jenkins L, et al. Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion[J]. Prenatal Diagn, 2017,37(7): 699-704.
|
29 |
中国医师协会检验医师分会分子诊断专家委员会. 实验室自建分子诊断项目基本要求专家共识[J]. 中华检验医学杂志, 2016, 39(12): 897-900.
|
30 |
Aziz N, Zhao Q, Bry L, et al. College of American Pathologists′ Laboratory Standards for next-generation sequencing clinical tests [J]. Arch Pathol Lab Med, 2015,139(4):481-493.
|
31 |
Kim J, Park WY, Kim NKD, et al. Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests [J]. J Pathol Translat Med, 2017,51(3):191-204.
|