Correction: A survey of diagnosis and therapy of inborn errors of immunity among practice-based physicians and clinic-based pneumologists and hemato-oncologists. [PDF]
Front ImmunolLehrnbecher T, Russo A, Rohde G.
europepmc +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady +10 more
wiley +1 more source
Interpreting whole-genome sequencing data during neonatal Klebsiella oxytoca complex outbreak management. [PDF]
Antimicrob Resist Infect ControlMinotti C +7 more
europepmc +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters. [PDF]
BMC ImmunolSağun F +6 more
europepmc +1 more source
Hormonal Crossroads in Inborn Errors of the Metabolism Impact of Puberty and Dietary Interventions on Metabolic Health [PDF]
Thomas Lundqvist +2 more
openalex +1 more source
Multimorbidity and animal models
Animal Models and Experimental Medicine, EarlyView.Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang +7 more
wiley +1 more source
The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study. [PDF]
BMC ImmunolEsmaeilzadeh H +4 more
europepmc +1 more source