#neonatalscreening
LightNews LightNews
northwell-journals.bsky.social
Molecular Medicine - Journal

August article highlight -In Press: Susceptibility haplotypes in non-cystic fibrosis newborns with elevated immunoreactive trypsinogen | #MolecularMedicine #CysticFibrosis #NeonatalScreening link.springer.com/article/10.1...
Figure 2. Volcano plot of variant-level association analysis between FP and TN groups. The x axis represents the −log10 false discovery rate (FDR), while the y-axis shows the log2 allele frequency (AF) ratio between false-positive (FP) and true-negative (TN) groups. Variants are color coded according to significance thresholds: non-significant variants (NS) are shown in grey, variants exceeding the log2 fold-change threshold only are shown in green, and variants significant for both FDR and log2 fold-change are shown in red.
August 13, 2026 at 6:44 PM
esidsociety.bsky.social
Don’t miss the next ESID Grand Round on July 24, 16:30 CET!
📌 Topic: Neonatal Screening for PIDs
🎙️ Expert speakers + live Q&A:
Jennifer Puck | Carsten Speckmann | Annelotte Duintjer
Moderated by Dr. Notarangelo & Dr. Hauck.

🔗 Register now: bit.ly/3GFUW2i

#ESID #PID #NeonatalScreening #Webinar
July 16, 2025 at 4:46 PM
mdpiopenaccess.bsky.social
We are excited to announce that 2025 marks the 10th anniversary of IJNS (ISSN 2409-515X), an international, peer-reviewed, open access journal on neonatal screening and medicine.

Find out more: buff.ly/gvQLAbR

#mdpi #openaccess #neonatalscreening #research
May 27, 2025 at 12:30 PM
gmj-georgia.bsky.social
Argentina's national registry reveals a sobering reality: congenital heart disease detection rates vary sixfold acr…

#Argentina #Congenitalheartdisease #Healthequity #Neonatalscreening #Publichealthdisparities

#Argentina #Congenitalheartdisease #Healthequity #Neonatalscreening #Publichealthdisp…
Argentina reveals wide disparities in CHD detection
Argentina's national registry reveals a sobering reality: congenital heart disease detection rates vary sixfold acr… #Argentina #Congenitalheartdisease #Healthequity #Neonatalscreening #Publichealthdisparities
news.gmj.ge
August 5, 2026 at 7:29 AM
ethicswinkler.bsky.social
New #publication of our #NEW_LIVES project 👶🧬

"Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?"

by Schnabel-Besson et al. @Int. J. Neonatal Screen.

#newbornscreening #NBS #neonatalscreening #genomicnewbornscreening #gNBS

doi.org/10.3390/ijns...
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS ...
doi.org
September 18, 2024 at 10:02 AM