Last Posted: Jan 13, 2019
- Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete Rosa et al. European journal of human genetics : EJHG 2019 Jan
- A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang Wenjie et al. BMC medical genetics 2019 Jan 20(1) 3
- Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns.
Rueegg Corina S et al. Pediatric pulmonology 2019 Jan
- Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
Okoniewski Katherine C et al. Brain sciences 2019 Jan 9(1)
- Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro Patrícia et al. European journal of pediatrics 2019 Jan
- Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus pre-screening patients.
Riedl Stefan et al. Endocrine connections 2019 Jan
- Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
O Ceyhan-Birsoy et al, AJHG, January 3, 2019
- Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.
Pereira Stacey et al. Pediatrics 2019 Jan 143(Suppl 1) S6-S13
- Congrats on the new baby. Would you like a DNA screening test?
By Susan Scutti, CNN, January 8, 2019
- Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns.
Lantos John D et al. Pediatrics 2019 Jan 143(Suppl 1) S1-S5