A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Main|Search|PHGKB




Last Posted: Jan 10, 2019

---

• 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
• [Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience].
  Walter Maggie C et al. Der Nervenarzt 2019 Jan

more