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The role of exome sequencing in newborn screening for inborn errors of metabolism.
Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10.
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Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.
Swiss Med Wkly. 2020 Jun 24;150:w20254. doi: 10.4414/smw.2020.20254. eCollection 2020 Jun 15.
3
Gene therapy for X-linked severe combined immunodeficiency: Historical outcomes and current status.
J Allergy Clin Immunol. 2020 Aug;146(2):258-261. doi: 10.1016/j.jaci.2020.05.055. Epub 2020 Jun 16.
4
Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency.
Blood Adv. 2020 Jun 23;4(12):2606-2610. doi: 10.1182/bloodadvances.2020001736.
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Gene therapy for severe combined immunodeficiencies and beyond.
J Exp Med. 2020 Jan 6;217(2). doi: 10.1084/jem.20190607.
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Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Eur J Pediatr. 2020 Feb;179(2):251-256. doi: 10.1007/s00431-019-03479-5. Epub 2019 Nov 11.
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FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.
J Clin Invest. 2019 Nov 1;129(11):4724-4738. doi: 10.1172/JCI127565.

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