共 132 条
[1]
Kwan A(2014)Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States JAMA 312 729-738
[2]
Abraham RS(2021)Implementation of universal newborn screening for severe combined immunodeficiency in Singapore while continuing routine Bacille-Calmette-Guerin Vaccination given at birth Front Immunol 12 794221-60
[3]
Currier R(2017)Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-year pilot TREC and KREC screening study J Clin Immunol 37 51-426
[4]
Brower A(2021)SCID newborn screening: what we've learned J Allergy Clin Immunol 147 417-64
[5]
Andruszewski K(2020)Second-tier next generation sequencing integrated in nationwide newborn screening provides rapid molecular diagnostics of severe combined immunodeficiency Front Immunol 11 1417-757
[6]
Abbott JK(2020)Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee J Clin Immunol 40 24-1436
[7]
Chan SB(2022)Experience with cultured thymus tissue in 105 children J Allergy Clin Immunol 149 747-5.e3
[8]
Zhong Y(2022)Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency J Allergy Clin Immunol 149 1428-1760
[9]
Lim SCJ(2016)Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies J Allergy Clin Immunol 138 303-576
[10]
Poh S(2009)Fast and accurate short read alignment with Burrows-Wheeler transform Bioinformatics 25 1754-802