Next-generation sequencing based newborn screening and comparative analysis with MS/MS

[1] Wilcken B(2008)Newborn screening Pathology 40 104-15

[2] Wiley V(2018)Newborn screening: history, current status, and future directions Pediatr Clin North Am 65 389-405

[3] El-Hattab AW(1963)A simple phenylalanine method for detecting Phenylketonuria in large populations of Newborn infants Pediatrics 32 338-43

[4] Almannai M(1990)Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism J Inherit Metab Dis 13 321-4

[5] Sutton VR(2020)Development of strategies to decrease false positive results in Newborn Screening Int J Neonatal Screen 6 84-99

[6] Guthrie R(2020)Reducing false-positive results in Newborn Screening using machine learning Int J Neonatal Screen 6 16-24

[7] Susi A(2018)Next-generation sequencing and the impact on prenatal diagnosis Expert Rev Mol Diagn 18 689-87

[8] Millington DS(2020)Molecular diagnosis and genetic counseling of cystic fibrosis and related disorders: New challenges Genes (Basel) 11 619-9

[9] Kodo N(2020)A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns Ann Transl Med 8 1058-5

[10] Norwood DL(2015)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 17 405-9

[1] Wilcken B(2008)Newborn screening Pathology 40 104-15

[2] Wiley V(2018)Newborn screening: history, current status, and future directions Pediatr Clin North Am 65 389-405

[3] El-Hattab AW(1963)A simple phenylalanine method for detecting Phenylketonuria in large populations of Newborn infants Pediatrics 32 338-43

[4] Almannai M(1990)Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism J Inherit Metab Dis 13 321-4

[5] Sutton VR(2020)Development of strategies to decrease false positive results in Newborn Screening Int J Neonatal Screen 6 84-99

[6] Guthrie R(2020)Reducing false-positive results in Newborn Screening using machine learning Int J Neonatal Screen 6 16-24

[7] Susi A(2018)Next-generation sequencing and the impact on prenatal diagnosis Expert Rev Mol Diagn 18 689-87

[8] Millington DS(2020)Molecular diagnosis and genetic counseling of cystic fibrosis and related disorders: New challenges Genes (Basel) 11 619-9

[9] Kodo N(2020)A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns Ann Transl Med 8 1058-5

[10] Norwood DL(2015)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 17 405-9