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1.赵正言.国际新生儿疾病筛查进展.中国儿童保健杂志，2012，20（3）:193-195.
2.徐艳华，秦玉峰，赵正言.中国新生儿先天性甲状腺功能低下症与苯丙酮尿症筛查22年回顾.中华儿科杂志，2009，47（1）:18-22.
3.赵正言，顾学范.新生儿疾病筛查.北京:人民卫生出版社，2015.
4.ROSENFELD M，SONTAG MK，REN CL.Cystic fibrosis diagnosis and newborn screening.Pediatr Clin North Am，2016，63:599-615.
5.MENDELL JR，SHILLING C，LESLIE ND，et al.Evidence-based path to newborn screening for Duchenne muscular dystrophy.Ann Neurol，2012，71:304-313.
6.KE Q，ZHAO ZY，GRIGGS R，et al.Newborn screening for Duchenne muscular dystrophy in China:followup diagnosis and subsequent treatment.World J Pediatr，2017，13:197-201.
7.赵晓东.促进原发性免疫缺陷病的新生儿筛查.中华儿科杂志，2015，53（12）:884-886.
8.BORTE S，VON DÖBELN U，HAMMARSTRÖM L.Guidelines for newborn screening of primary immunodeficiency diseases.CurrOpinHematol，2013，20:48-54.
9.KWAN A，PUCK JM.History and current status of newborn screening for severe combined immunodeficiency.Semin Perinatol，2015，39:194-205.
10.NAKAGAWA N，IMAI K，KANEGANE H，et al.Quantification of kappa-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.J Allergy Clin Immunol，2011，128:e223-225.
11.ROSS LF，CLARKE AJ.A historical and current review of newborn screening for neuromuscular disorders from around the world:lessons for the United States.Pediatr Neurol，2017，77:12-22.
12.CHIEN YH，CHIANG SC，WENG WC，et al.Presymptomatic diagnosis of spinal muscular atrophy through newborn screening.J Pediatr，2017，190:124-129.
13.WANG Q，XIANG J，SUN J，et al.Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.Genet Med，2019，21:2231-2238.
14.MORTON CC，NANCEWE.Newborn hearing screening-A silent revolution.New Engl J Med，2006，354:2151-2164.
15.ZHANG J，WANG P，HAN B，et al.Newborn hearing concurrent genetic screening for hearing impairment-A clinical practice in 58，397 neonates in Tianjin，China.Int J Pediatr Otorhinolaryngol，2013，77:1929-1935.
16.HOLM IA，AGRAWAL PB，CEYHAN-BIRSOYO，et al.The BabySeq project:implementing genomic sequencing in newborns.BMC Pediatr，2018，18:225.
17.FARNAES L，HILDRETH A，SWEENEY NM，et al.Rapid whole genome sequencing decreases morbidity and healthcare cost of hospitalized infants.NPJ Genom Med，2018，3:10.
18.ALMANNAI M，MAROM R，SUTTON VR.Newborn screening:a review of history，recent advancements，and future perspectives in the era of next generation sequencing.Curr Opin Pediatr，2016，28（6）:694-699.
19.ARNOLD GL.Inborn errors of metabolism in the 21（st）century:past to present.Ann Transl Med，2018，6（24）:467.
20.王灵芝，郝明.公正原则视角下新生儿基因检测资源配置的伦理思考 .中国医学伦理学，2016，29（6）:990-992.
21.THERRELL BL JR，PADILLA CD.Newborn screening in the developing countries.Curr Opin Pediatr，2018，30（6）:734-739.
22.卫生部临床检验中心新生儿遗传代谢疾病筛查室间质量评价委员会.新生儿疾病串联质谱筛查技术专家共识 .中华检验医学杂志，2019，42（2）:89-97.
23.徐素华，杨琳，吴冰冰，等 .疑似遗传代谢病的高危新生儿行质谱检测与高通量测序检测诊断准确性研究 .中国循证儿科杂志，2019，14（01）:1-7.
24.ABOU TAYOUN AN，AL TURKISH，OZAAM，et al.Improving hearing loss gene testing:a systematic review of gene evidence toward more efficient nextgeneration sequencing-based diagnostic testing and interpretation.Genet Med，2016，18（6）:545-553.
25.中华医学会儿科学分会免疫学组，《中华儿科杂志》编辑委员会.原发性免疫缺陷病抗感染治疗与预防专家共识 .中华儿科杂志，2017，55（4）:248-255.
26.徐湘民.地中海贫血预防控制操作指南.北京:人民军医出版社，2011:15-20.
27.PUNJ S，HUANG J，AKKARI Y，et al.Preconception carrier screening by genome sequencing:results from the clinical laboratory.Am J Hum Genet，2018，102:1078-1089.
28.Committee Opinion No.691:Carrier Screening for Genetic Conditions.Obstet Gynecol，2017，129（3）:e41-55.
29.CHOKOSHVILI D，VEARS D，BORRY P.Expanded carrier screening for monogenic disorders:where are we now ？Prenat Diagn，2018，38:59-66.
30.RICHARDS S，AZIZ N，BALE S.ACMG Laboratory Quality Assurance Committee.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.Genet Med，2015，17（5）:405-424.