A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review

• by Yousaf, Hammad , Zonash, Zehra , Manzoor, Javeria , Ali, Asmat , Khalid, Lubaba Bintee, Zafar, Ghazala , Ali, Sajid , Toft, Mathias , Fatima, Ambrin , Iqbal, Zafar

• April 29, 2026

Diabetes Risk Scores: Beyond Glucose

Multi-ancestry polygenic models identify high-risk patients traditional screening may miss.

• by Kathryn Wighton

• May 13, 2026

• 5 min

Sleep Program Shifted Teen Circadian Timing

Two-week chronotherapy trial evaluates circadian phase, sleep duration, and alignment outcomes.

• by Kathryn Wighton

• May 13, 2026

• 6 min

Highlighting the value of polymyography in childhood onset movement disorders

• by Raffaella Moretti, Claudia Ravelli, Yara Ahmar, Nathalie Dorison, Marie De Salins, Diana Rodriguez, Kumaran Deiva, Anne Isabelle Vermersch, Minh Hanh Triboulet, Stéphanie Valence, Madeleine Harion, Lydie Burglen, Emmanuelle Apartis, Diane Doummar

• May 28, 2026