[1] | Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A . OMIM.org: online mendelian inheritance in man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res, 2015,43:D789-D798. | [2] | Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, Jang W, Katz K, Ovetsky M, Riley G, Sethi A, Tully R, Villamarin- Salomon R, Rubinstein W, Maglott DR . ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res, 2016,44:D862-D868. | [3] | Shah N, Hou YC, Yu HC, Sainger R, Caskey CT, Venter JC, Telenti A . Identification of misclassified clinvar variants via disease population prevalence. Am J Hum Genet, 2018,102(4):609-619. | [4] | Burn J, Watson M . The human variome project. Hum Mutat, 2016,37:505-507. | [5] | Pan M, Cong P, Wang Y, Lin C, Yuan Y, Dong J, Banerjee S, Zhang T, Chen Y, Zhang T, Chen M, Hu P, Zheng S, Zhang J, Qi M . Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population. Hum Mutat, 2011,32(12):1335-1340. | [6] | Zhang T, Moss A, Cong P, Pan M, Chang B, Zheng L, Fang Q, Zareba W, Robinson J, Lin C, Li Z, Wei J, Zeng Q , Long QT International Registry Investigators; HVP-China Investigators, Qi M. LQTS gene LOVD database. Hum Mutat, 2010,31:E1801-E1810. | [7] | Nathan DG . Hemoglobin disorders: a look to the future. Blood, 2013,122:859-860. | [8] | Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M . IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One, 2014,9:e103020. | [9] | Ware RE, de Montalembert M, Tshilolo L, Abboud MR . Sickle cell disease. LANCET . 2017,390(10091):311-323. | [10] | Shang X, Peng Z, Ye Y, Asan, Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Yin X, Wu L, He J, Huang D, He S, Yan T, Fan X, Zhou Y, Wei X, Zhao S, Cai D, Guo F, Zhang Q, Li Y, Zhang X, Lu H, Huang H, Guo J, Zhu F, Yuan Y, Zhang L, Liu N, Li Z, Jiang H, Zhang Q, Zhang Y, Juhari WKW, Hanafi S, Zhou W, Xiong F, Yang H, Wang J, Zilfalil BA, Qi M, Yang Y, Yin Y, Mao M, Xu X . Rapid targeted Next-Generation sequencing platform for molecular screening and clinical genotyping in subjects with hemoglobinopathies. E Bio Medicine, 2017,23:150-159. | [11] | Taher AT, Weatherall DJ, Cappellini MD . Thalassaemia. Lancet, 2018,391(10116):155-167. | [12] | Liu D, Zhang X, Yu L, Cai R, Ma X, Zheng C, Zhou Y, Liu Q, Wei X, Lin L, Yan T, Huang J, Mohandas N, An X, Xu X . KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood, 2014,124(5):803-811. | [13] | Pandey H, Ranjan R, Singh K, Sharma A, Kishor K, Seth T, Saxena R . Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India. Hematology, 2018,23:692-696. | [14] | Wienert B, Martyn GE, Funnell APW, Quinlan KGR, Crossley M . Wake-up sleepy gene: Reactivating fetal globin for β-Hemoglobinopathies. Trends Genet, 2018,34(12):927-940. | [15] | den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE . HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat, 2016,37(6):564-569. | [16] | Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, Angastioniotis M, De la Salle B,, Henderson S,, May A, . EMQN best practice guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet, 2015,23(4):560. | [17] | Passarello C, Giambona A, Cannata M, Vinciguerra M, Renda D, Maggio A . Iron deficiency does not compromise the diagnosis of high HbA(2) β thalassemia trait. Haematologica, 2011,97(3):472-473. | [18] | Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL . Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. Br J Haematol, 2018,180(1):160-164. | [19] | Perkins A, Xu X, Higgs DR, Patrinos GP, Arnaud L, Bieker JJ, Philipsen S , KLF1 Consensus Workgroup. Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood, 2016,127(15):1856-1862. | [20] | Zhang YS, Xia L, Sang J, Li M, Liu L, Li MW, Niu GY, Cao JB, Teng XF, Zhou Q, Zhang Z . The big data center's database resources. Hereditas (Beijing), 2018,40:1039-1043. | [20] | 张源笙, 夏琳, 桑健, 李漫, 刘琳, 李萌伟, 牛广艺, 曹佳宝, 滕徐菲, 周晴, 章张 . 生命与健康大数据中心资源. 遗传, 2018,40(11):1039-1043. | [21] | Song SH, Teng XF, Xiao JF . Database resources of the reference genome and genetic variation maps for the Chinese population. Hereditas (Beijing), 2018,40(11):1048-1054. | [21] | 宋述慧, 滕徐菲, 肖景发 . 中国人群参考基因组及基因组变异图谱资源库. 遗传, 2018,40(11):1048-1054. | [22] | Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, Manca M, Sollaino MC, Manunza L, Mereu E, Marceddu G, Pissard S, Joly P, Thuret I, Origa R, Borg J, Forni GL, Piga A, Lai ME, Badens C, Moi P, Galanello R . A genetic score for the prediction of beta-thalassemia severity. Haematologica, 2015,100(4):452-457. |
|