References
- Maryami F, Azarkeivan A, Fallah MS, et al. A large cohort study of genotype and phenotype correlations of β-thalassemia in Iranian population. Int J Hematol Oncol Stem Cell Res. 2015;9(4):198–202.
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063-D1069 (http://globin.cse.psu.edu).
- Moafi A, Vallian R, Vallian S, et al. The pros and cons of the fourth revision of thalassaemia screening programme in Iran. J Med Screen. 2017;24(1):1–5.
- Barrett AN, Saminathan R, Choolani M. Thalassaemia screening and confirmation of carriers in parents. Best Pract Res Clin Obstet Gynaecol. 2017;39:27–40.
- Li DZ, Yang YD. Invasive prenatal diagnosis of fetal thalassemia. Best Pract Res Clin Obstet Gynaecol. 2017;39:41–52.
- Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487.
- Scotchman E, Chandler NJ, Mellis R, et al. Noninvasive prenatal diagnosis of single-gene diseases: the next frontier. Clin Chem. 2020;66(1):53–60.
- Mauger F, How-Kit A, Tost J. COLD-PCR technologies in the area of personalized medicine: methodology and applications. Mol Diagn Ther. 2017;21(3):269–283.
- Galbiati S, Brisci A, Damin F, et al. Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of β-thalassemia. Expert Opin Biol Ther. 2012;12(sup1):S181–S187.
- Milbury CA, Chen CC, Mamon H, et al. Multiplex amplification coupled with COLD-PCR and high resolution melting enables identification of low-abundance mutations in cancer samples with low DNA content. J Mol Diagn. 2011;13(2):220–232.
- Li J, Makrigiorgos GM. COLD-PCR: a new platform for highly improved mutation detection in cancer and genetic testing. Biochem Soc Trans. 2009;37(Pt 2):427–432.
- Li J, Wang L, Mamon H, et al. Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat. Med. 2008;14(5):579–584.
- Galbiati S, Brisci A, Lalatta F, et al. Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin Chem. 2011;57(1):136–138.
- Macher HC, Martinez-Broca MA, Rubio-Calvo A, et al. Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum. PLoS One. 2012;7(12):e51024.
- Galbiati S, Monguzzi A, Damin F, et al. COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma. J Med Genet. 2016;53(7):481–487.
- Paganini I, Mancini I, Baroncelli M, et al. Application of COLD-PCR for improved detection of NF2 mosaic mutations. J Mol Diagn. 2014;16(4):393–399.
- Salvianti F, Massi D, De Giorgi V, et al. Evaluation of the liquid biopsy for the detection of BRAFV600E mutation in metastatic melanoma patients. Cancer Biomark. 2019;26(3):271–279.
- Ham-Karim HA, Ebili HO, Manger K, et al. Targeted next-generation sequencing validates the use of diagnostic biopsies as a suitable alternative to resection material for mutation screening in colorectal cancer. Mol Diagn Ther. 2019;23(3):383–393.
- Galbiati S, Damin F, Burgio V, et al. Evaluation of three advanced methodologies, COLD-PCR, microarray and ddPCR, for identifying the mutational status by liquid biopsies in metastatic colorectal cancer patients. Clin Chim Acta. 2019;489:136–143.
- Zhang Q, Liu K, Yang W, et al. Detection of IDH1 and IDH2 mutation in formalin-fixed paraffin-embedded gliomas using allele-specific COLD-PCR and probe melting curve analysis. Appl Immunohistochem Mol Morphol. 2018;26(9):e93–e100.
- Ghalamkari S, Khosravian F, Mianesaz H, et al. A comparison between full-COLD PCR/HRM and PCR sequencing for detection of mutations in exon 9 of PIK3CA in breast cancer patients. Appl. Biochem. Biotechnol. 2019;187(3):975–983.
- Lupini L, Moretti A, Bassi C, et al. High-sensitivity assay for monitoring ESR1 mutations in circulating cell-free DNA of breast cancer patients receiving endocrine therapy. Sci Rep. 2018;8(1):4371.
- Steinfort DP, Kranz S, Dowers A, et al. Sensitive molecular testing methods can demonstrate NSCLC driver mutations in malignant pleural effusion despite non-malignant cytology. Transl Lung Cancer Res. 2019;8(4):513–518.
- How-Kit A, Daunay A, Buhard O, et al. Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCR. Hum Mutat. 2018;39(3):441–453.
- Bustamante-Aragones A, Rodriguez de Alba M, Perlado S, et al. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene. 2012;504(1):144–149.
- Camunas-Soler J, Lee H, Hudgins L, et al. Noninvasive prenatal diagnosis of single-gene disorders by use of droplet digital PCR. Clin Chem. 2018;64(2):336–345.
- Wang W, Yuan Y, Zheng H, et al. A pilot study of noninvasive prenatal diagnosis of α- and β-thalassemia with target capture sequencing of cell-free fetal DNA in maternal blood. Genet Test Mol Biomarkers. 2017;21(7):433–439.