Overview of genetic testing in Prader-Willi syndrome

References

• Butler MG, Miller JL, Forster JL. Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: an update. Curr Pediatr Rev. 2019;15(4):207–244. doi: 10.2174/1573396315666190716120925
   PubMed Web of Science ®Google Scholar
• Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015 Dec;38(12):1249–1263. doi: 10.1007/s40618-015-0312-9
   PubMed Web of Science ®Google Scholar
• Beygo J, Buiting K, Ramsden SC, et al. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes. Eur J Hum Genet. 2019 Sep;27(9):1326–1340. doi: 10.1038/s41431-019-0435-0
   PubMed Web of Science ®Google Scholar
• Glenn CC, Saitoh S, Jong MT, et al. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet. 1996 Feb;58(2):335–346.
   PubMed Web of Science ®Google Scholar
• Cheon CK. Genetics of Prader-Willi syndrome and Prader-Will-like syndrome. J Pediatr Endocrinol Metab. 2016 Sep;21(3):126–135. doi: 10.6065/apem.2016.21.3.126
   Google Scholar
• Yang L, Shu X, Mao S, et al. Genotype–Phenotype Correlations in Angelman Syndrome. Genes. 2021;12(7):987. doi: 10.3390/genes12070987
   PubMed Web of Science ®Google Scholar
• Buiting K, Cassidy SB, Driscoll DJ, et al. Clinical utility gene card for: prader-Willi syndrome. Eur J Hum Genet. 2014 Sep;22(9):1153–1153. doi: 10.1038/ejhg.2014.66
   Web of Science ®Google Scholar
• Tauber M, Hoybye C. Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction. Lancet Diabetes Endocrinol. 2021 Apr;9(4):235–246. doi: 10.1016/S2213-8587(21)00002-4
   PubMed Web of Science ®Google Scholar
• Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May;155a(5):1040–1049. doi: 10.1002/ajmg.a.33951
   PubMed Web of Science ®Google Scholar
• Yang L, Zhou Q, Ma B, et al. Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients. Orphanet J Rare Diseases. 2020 Jan 21;15(1):24. doi: 10.1186/s13023-020-1306-z
   PubMed Web of Science ®Google Scholar
• Gunay-Aygun M, Schwartz S, Heeger S, et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001 Nov;108(5):E92. doi: 10.1542/peds.108.5.e92
   PubMed Web of Science ®Google Scholar
• Grugni G, Sartorio A, Crinò A. Growth hormone therapy for Prader-Willi syndrome: challenges and solutions. Ther Clin Risk Manag. 2016;12:873–881. doi: 10.2147/TCRM.S70068
   PubMed Web of Science ®Google Scholar
• Bridges N. What is the value of growth hormone therapy in Prader Willi syndrome? Archives of disease in childhood. Arch Dischildhood. 2014 Feb;99(2):166–170. doi: 10.1136/archdischild-2013-303760
   PubMedGoogle Scholar
• Brunetti G, Grugni G, Piacente L, et al. Analysis of circulating mediators of bone remodeling in Prader–Willi syndrome. Calcif Tissue Int. 2018 Jun;102(6):635–643. doi: 10.1007/s00223-017-0376-y
   PubMed Web of Science ®Google Scholar
• Cheng R. Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome. World J Pediatr. 2023;19(5):438–449. doi: 10.1007/s12519-022-00653-y
   PubMed Web of Science ®Google Scholar
• Kimonis VE, Tamura R, Gold JA, et al. Early diagnosis in Prader–Willi syndrome reduces obesity and associated co-morbidities. Genes. 2019 Nov 6;10(11):898. doi: 10.3390/genes10110898
   PubMed Web of Science ®Google Scholar
• Bakker NE, Siemensma EP, van Rijn M, et al. Beneficial effect of growth hormone treatment on health-related quality of life in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. Hormone Res Paediatrics. 2015;84(4):231–239. doi: 10.1159/000437141
   PubMed Web of Science ®Google Scholar
• Lecka-Ambroziak A, Wysocka-Mincewicz M, Doleżal-Ołtarzewska K, et al. Effects of recombinant human growth hormone treatment, depending on the therapy start in different nutritional phases in paediatric patients with Prader–Willi Syndrome: a Polish multicentre study. JCM. 2021 Jul 19;10(14):3176. doi: 10.3390/jcm10143176
   Google Scholar
• Bacheré N, Diene G, Delagnes V, et al. Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants. Hormone Res. 2008;69(1):45–52. doi: 10.1159/000111795
   PubMedGoogle Scholar
• Yang-Li D, Fei-Hong L, Hui-Wen Z, et al. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China. Orphanet J Rare Diseases. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z
   PubMed Web of Science ®Google Scholar
• Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome. Genet Med. 2012 Jan;14(1):10–26. doi: 10.1038/gim.0b013e31822bead0
   PubMed Web of Science ®Google Scholar
• Bittel DC, Butler MG. Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. 2005 Jul 25;7(14):1–20.
   PubMedGoogle Scholar
• Torrado M, Araoz V, Baialardo E, et al. Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study. Am J Med Genet A. 2007 Mar 1;143(5):460–468. doi: 10.1002/ajmg.a.31520
   Google Scholar
• Kim Y, Wang SE, Jiang YH. Epigenetic therapy of Prader-Willi syndrome. Transl Res. 2019 Jun;208:105–118. doi: 10.1016/j.trsl.2019.02.012
   PubMed Web of Science ®Google Scholar
• Kim SJ, Miller JL, Kuipers PJ, et al. Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes. Eur J Hum Genet. 2012 Mar;20(3):283–290. doi: 10.1038/ejhg.2011.187
   PubMed Web of Science ®Google Scholar
• Butler MG, Hartin SN, Hossain WA, et al. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2019 Mar;56(3):149–153. doi: 10.1136/jmedgenet-2018-105301
   PubMed Web of Science ®Google Scholar
• Alves C, Franco RR. Prader-Willi syndrome: endocrine manifestations and management. Arch Endocrinol Metab. 2020 May;64(3):223–234. doi: 10.20945/2359-3997000000248
   PubMed Web of Science ®Google Scholar
• Roof E, Stone W, MacLean W, et al. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000 Feb;44(1):25–30. doi: 10.1046/j.1365-2788.2000.00250.x
   PubMedGoogle Scholar
• Whittington JE, Butler JV, Holland AJ. Changing rates of genetic subtypes of Prader–Willi syndrome in the UK. Eur J Hum Genet. 2007 Jan;15(1):127–130. doi: 10.1038/sj.ejhg.5201716
   PubMed Web of Science ®Google Scholar
• Glenn CC, Driscoll DJ, Yang TP, et al. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Mol Hum Reprod. 1997 Apr;3(4):321–332. doi: 10.1093/molehr/3.4.321
   PubMed Web of Science ®Google Scholar
• Ohta T, Gray TA, Rogan PK, et al. Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet. 1999 Feb;64(2):397–413. doi: 10.1086/302233
   PubMed Web of Science ®Google Scholar
• Ming JE, Blagowidow N, Knoll JH, et al. Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. Am J Med Genet A. 2000 May 1;92(1):19–24.
   Web of Science ®Google Scholar
• Casamassima AC, Shapiro LR, Wilmot PL, et al. Prader-Willi syndrome and Robertsonian translocations involving chromosome 15. Clin Genet. 1991 Apr;39(4):294–297. doi: 10.1111/j.1399-0004.1991.tb03028.x
   PubMed Web of Science ®Google Scholar
• Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993 Feb;91(2):398–402. doi: 10.1542/peds.91.2.398
   PubMed Web of Science ®Google Scholar
• Smith A, Prasad M, Deng ZM, et al. Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman’s syndromes. Arch Dischildhood. 1995 May;72(5):397–402. doi: 10.1136/adc.72.5.397
   PubMed Web of Science ®Google Scholar
• Borelina D, Engel N, Esperante S, et al. Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes. J Biochem Mol Biol. 2004 Sep 30;37(5):522–526. doi: 10.5483/BMBRep.2004.37.5.522
   PubMedGoogle Scholar
• Gozzetti A, Le Beau MM. Fluorescence in situ hybridization: uses and limitations. Semin Hematol. 2000 Oct;37(4):320–333. doi: 10.1016/S0037-1963(00)90013-1
   PubMed Web of Science ®Google Scholar
• Schad CR, Jalal SM, Thibodeau SN. Genetic testing for Prader-Willi and Angelman syndromes. Mayo Clin Proc. 1995 Dec;70(12):1195–1196. doi: 10.4065/70.12.1195
   PubMed Web of Science ®Google Scholar
• Sukarova-Angelovska E, Piperkova K, Sredovska A, et al. Implementation of fluorescent in situ hybridization (FISH) as a method for detecting microdeletion syndromes - our first experiences. Prilozi. 2007 Dec;28(2):87–98.
   PubMedGoogle Scholar
• Smith A, Hung D. The dilemma of diagnostic testing for Prader-Willi syndrome. Transl Pediatr. 2017 Jan;5(1):46–56. doi: 10.21037/tp.2016.07.04
   Google Scholar
• Van den Veyver IB, Beaudet AL. Comparative genomic hybridization and prenatal diagnosis. Current Opinion In Obstetrics & Gynecology. 2006 Apr;18(2):185–191. doi: 10.1097/01.gco.0000192986.22718.cc
   PubMed Web of Science ®Google Scholar
• Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Sterility. 2018 Feb;109(2):201–212. doi: 10.1016/j.fertnstert.2018.01.005
   PubMed Web of Science ®Google Scholar
• Stosic M, Levy B, Wapner R. The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol Clin North Am. 2018 Mar;45(1):55–68. doi: 10.1016/j.ogc.2017.10.002
   PubMed Web of Science ®Google Scholar
• Lo JO, Shaffer BL, Feist CD, et al. Chromosomal microarray analysis and prenatal diagnosis. Obstet Gynecol Surv. 2014 Oct;69(10):613–621. doi: 10.1097/OGX.0000000000000119
   PubMed Web of Science ®Google Scholar
• Southern E. Southern blotting. Nat Protoc. 2006;1(2):518–525. doi: 10.1038/nprot.2006.73
   PubMed Web of Science ®Google Scholar
• Wevrick R, Francke U. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet (London, England). 1996 Oct 19;348(9034):1068–1069.
   PubMed Web of Science ®Google Scholar
• Muralidhar B, Marney A, Butler MG. Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities. Genet Med. 1999 May;1(4):141–145. doi: 10.1097/00125817-199905000-00005
   PubMed Web of Science ®Google Scholar
• Chotai KA, Payne SJ. A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes. J Med Genet. 1998 Jun;35(6):472–475. doi: 10.1136/jmg.35.6.472
   PubMed Web of Science ®Google Scholar
• Herman JG, Graff JR, Myöhänen S, et al. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA. 1996 Sep 3;93(18):9821–9826. doi: 10.1073/pnas.93.18.9821
   PubMed Web of Science ®Google Scholar
• Zeschnigk M, Lich C, Buiting K, et al. A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet. 1997 Mar;5(2):94–98. doi: 10.1159/000484740
   PubMed Web of Science ®Google Scholar
• Morandi A, Bonnefond A, Lobbens S, et al. A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array. Am J Med Genet A. 2015 Nov;167a(11):2720–2726. doi: 10.1002/ajmg.a.37222
   PubMedGoogle Scholar
• Baumer A, Wiedemann U, Hergersberg M, et al. A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms. Human Mutation. 2001 May;17(5):423–430. doi: 10.1002/humu.1118
   PubMed Web of Science ®Google Scholar
• Hussain Askree S, Hjelm LN, Ali Pervaiz M, et al. Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing. J Mol Diagn. 2011 Jan;13(1):108–112. doi: 10.1016/j.jmoldx.2010.11.006
   PubMed Web of Science ®Google Scholar
• Hamajima N, Saito T, Matsuo K, et al. Competitive amplification and unspecific amplification in polymerase chain reaction with confronting two-pair primers. J Mol Diagn. 2002 May;4(2):103–107. doi: 10.1016/S1525-1578(10)60688-5
   PubMed Web of Science ®Google Scholar
• Ronaghi M, Uhlén M, Nyrén P. A sequencing method based on real-time pyrophosphate. Science. 1998 Jul 17;281(5375):363, 365.
   PubMed Web of Science ®Google Scholar
• Dupont JM, Tost J, Jammes H, et al. De Novo quantitative bisulfite sequencing using the pyrosequencing technology. Anal Biochem. 2004 Oct 1;333(1):119–127. doi: 10.1016/j.ab.2004.05.007
   PubMed Web of Science ®Google Scholar
• White HE, Durston VJ, Harvey JF, et al. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome. Clin Chem. 2006 Jun;52(6):1005–1013. doi: 10.1373/clinchem.2005.065086
   PubMed Web of Science ®Google Scholar
• Worm J, Aggerholm A, Guldberg P. In-tube DNA methylation profiling by fluorescence melting curve analysis. Clin Chem. 2001;47(7):1183–1189. doi: 10.1093/clinchem/47.7.1183
   PubMed Web of Science ®Google Scholar
• Hung CC, Lin SY, Lin SP, et al. Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis. J Mol Diagn. 2011 Nov;13(6):609–613. doi: 10.1016/j.jmoldx.2011.06.005
   PubMed Web of Science ®Google Scholar
• Procter M, Chou LS, Tang W, et al. Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem. 2006 Jul;52(7):1276–1283. doi: 10.1373/clinchem.2006.067603
   PubMed Web of Science ®Google Scholar
• Wang W, Law HY, Chong SS. Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis. J Mol Diagn. 2009 Sep;11(5):446–449. doi: 10.2353/jmoldx.2009.090015
   PubMed Web of Science ®Google Scholar
• White HE, Hall VJ, Cross NC. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clin Chem. 2007 Nov;53(11):1960–1962. doi: 10.1373/clinchem.2007.093351
   PubMed Web of Science ®Google Scholar
• Dahl C, Guldberg P. High-resolution melting for accurate assessment of DNA methylation. Clin Chem. 2007 Nov;53(11):1877–1878. doi: 10.1373/clinchem.2007.094854
   PubMed Web of Science ®Google Scholar
• Ribeiro Ferreira I, Darleans Dos Santos Cunha W, Henrique Ferreira Gomes L, et al. A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients. Mol Gene Genomic Med. 2019 Jun;7(6):e637. doi: 10.1002/mgg3.637
   PubMed Web of Science ®Google Scholar
• Moelans CB, Atanesyan L, Savola SP, et al. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Methods in molecular biology. Vol. 1708, Clifton (NJ); 2018p. 537–549.
   Google Scholar
• Bittel DC, Kibiryeva N, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Genet Test. 2007;11(4):467–475. Winter. doi: 10.1089/gte.2007.0061
   PubMedGoogle Scholar
• Henkhaus RS, Kim SJ, Kimonis VE, et al. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers. 2012 Mar;16(3):178–186. doi: 10.1089/gtmb.2011.0115
   PubMed Web of Science ®Google Scholar
• Schlötterer C. Evolutionary dynamics of microsatellite DNA. Chromosoma. 2000 Sep;109(6):365–371. doi: 10.1007/s004120000089
   PubMed Web of Science ®Google Scholar
• Devriendt K, Matthijs G, Claes S, et al. Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis. J Med Genet. 1997 Apr;34(4):318–322. doi: 10.1136/jmg.34.4.318
   PubMed Web of Science ®Google Scholar
• Mao L. Microsatellite analysis. Applications and pitfalls. Ann N Y Acad Sci. 2000 Apr;906(1):55–62. doi: 10.1111/j.1749-6632.2000.tb06591.x
   PubMedGoogle Scholar
• Yin QF, Yang L, Zhang Y, et al. Long noncoding RNAs with snoRNA ends. Molecular Cell. 2012 Oct 26;48(2):219–230. doi: 10.1016/j.molcel.2012.07.033
   PubMed Web of Science ®Google Scholar
• Xing YH, Chen LL. Processing and roles of snoRNA-ended long noncoding RNAs. Critical reviews in biochemistry and molecular biology. Crit Rev Biochem Mol Biol. 2018 Dec;53(6):596–606. doi: 10.1080/10409238.2018.1508411
   PubMed Web of Science ®Google Scholar
• Bigi N, Faure JM, Coubes C, et al. Prader-Willi syndrome: is there a recognizable fetal phenotype? Prenat Diagn. 2008 Sep;28(9):796–799. doi: 10.1002/pd.1973
   PubMed Web of Science ®Google Scholar
• Srebnik N, Gross Even-Zohar N, Salama A, et al. Recognizing the unique prenatal phenotype of Prader-Willi syndrome (PWS) indicates the need for a diagnostic methylation test. Prenat Diagn. 2020 Jun;40(7):878–884. doi: 10.1002/pd.5712
   PubMed Web of Science ®Google Scholar
• Glenn CC, Deng G, Michaelis RC, et al. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn. 2000 Apr;20(4):300–306. doi: 10.1002/(SICI)1097-0223(200004)20:4<300:AID-PD803>3.0.CO;2-A
   PubMed Web of Science ®Google Scholar
• Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1–9. doi: 10.1016/j.ajog.2014.11.041
   PubMed Web of Science ®Google Scholar
• Vora NL, O’Brien BM. Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet & Gynecol. 2014 May;123(5):1097–1099. doi: 10.1097/AOG.0000000000000237
   PubMed Web of Science ®Google Scholar
• Butler MG. Benefits and limitations of prenatal screening for Prader-Willi syndrome. Prenat Diagn. 2017 Jan;37(1):81–94. doi: 10.1002/pd.4914
   PubMed Web of Science ®Google Scholar
• Chang CW, Hsu HK, Kao CC, et al. Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13. Int J Gynaecol Obstet Off Organ Int Fed Gynaecol Obstet. 2014 Apr;125(1):18–21. doi: 10.1016/j.ijgo.2013.09.028
   PubMed Web of Science ®Google Scholar
• Hollegaard MV, Grauholm J, Nielsen R, et al. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing. Mol Gene Metabol. 2013 Sep;110(1–2):65–72. doi: 10.1016/j.ymgme.2013.06.004
   PubMed Web of Science ®Google Scholar
• Mahmoud R, Singh P, Weiss L, et al. Newborn screening for Prader-Willi syndrome is feasible: early diagnosis for better outcomes. Am J Med Genet A. 2019 Jan;179(1):29–36. doi: 10.1002/ajmg.a.60681
   PubMed Web of Science ®Google Scholar
• Ferreira IR, Costa RA, Gomes LHF, et al. A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes. Sci Rep. 2020 Aug 3;10(1):13026. doi: 10.1038/s41598-020-69750-0
   PubMed Web of Science ®Google Scholar
• Godler DE, Ling L, Gamage D, et al. Feasibility of screening for chromosome 15 imprinting disorders in 16 579 newborns by using a novel genomic workflow. JAMA Netw Open. 2022 Jan 4;5(1):e2141911. doi: 10.1001/jamanetworkopen.2021.41911
   PubMed Web of Science ®Google Scholar
• Inaba Y, Schwartz CE, Bui QM, et al. Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots. Clin Chem. 2014 Jul;60(7):963–973. doi: 10.1373/clinchem.2013.217331
   PubMed Web of Science ®Google Scholar
• Xiao H, Zhang J, Dong X, et al. Secondary genomic findings in the 2020 China Neonatal Genomes Project participants. World J Pediatr. 2022;18(10):687–694. doi: 10.1007/s12519-022-00558-w
   PubMed Web of Science ®Google Scholar
• Tong F. Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts. World J Pediatr. 2022;18(4):235–242. doi: 10.1007/s12519-022-00522-8
   PubMed Web of Science ®Google Scholar