Utilization of archived neonatal dried blood spots for genome-wide genotyping

Author:

Sok PagnaORCID,Lupo Philip J.ORCID,Richard Melissa A.,Rabin Karen R.,Ehli Erik A.ORCID,Kallsen Noah A.,Davies Gareth E.,Scheurer Michael E.,Brown Austin L.

Funder

Cancer Prevention and Research Institute of Texas

Division of Cancer Epidemiology and Genetics, National Cancer Institute

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference34 articles.

1. A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS;R GUTHRIE;Pediatrics,1963

2. Newborn Screening: History, Current Status, and Future Directions;AW El-Hattab;Pediatr Clin North Am,2018

3. Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing;M Almannai;Curr Opin Pediatr,2016

4. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database;LD Pena;Mol Genet Metab,2016

5. Newborn screening for cystic fibrosis;C Castellani;Lancet Respir Med,2016

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