A multi-dimensional framework for establishing and managing a genomic newborn screening program
The above-described methodology resulted in a multi-dimensional framework for a gNBS program consisting of 18 screening criteria (Table 1)…
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
Kingsmore SF, Nofsinger R, Ellsworth K. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care…
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases
Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…
Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations | Orphanet Journal of Rare Diseases
General principles of nutritional management Early diagnosis and management of IEM are essential. Newborn screening programs for IEM…
Uli-epic: profiling RNA modifications from ultra-low input samples | Genome Biology
McCown PJ, Ruszkowska A, Kunkler CN, Breger K, Hulewicz JP, Wang MC, et al. Naturally occurring modified ribonucleosides.…
The global burden of motor neuron disease: a systematic and additional analysis of global burden disease study 2021 | Orphanet Journal of Rare Diseases
Data source The GBD 2021 employed the most up-to-date epidemiological data, complemented by refined and standardized methodologies, to…
Clinical manifestations and treatment of peripheral odontogenic keratocysts: two cases and a literature review | Orphanet Journal of Rare Diseases
POKC is a particular type of OKC. Investigating the origin of POKC is critical, and its origin may…
Unlocking the regulatory code of RNA: launching the Human RNome Project | Genome Biology
The Human RNome Project aims to ensure consistent and reproducible outcomes in RNA sequencing and modification studies by…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology
Plant lines and growth conditions The plant lines used in this study were derived from A. thaliana wild-type…
Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs
Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…
AI Human Genetics Platform Mystra Debuts for Drug Discovery, Validation
Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…