Human Genetics - Israel News Beep

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

January 10, 2026

Kingsmore SF, Nofsinger R, Ellsworth K. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care…

HHealth

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes | Orphanet Journal of Rare Diseases

November 19, 2025

Seven patients (6 males and 1 female) presented with ten episodes of acute encephalopathy, and cerebral edema was…

HHealth

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations | Orphanet Journal of Rare Diseases

November 17, 2025

General principles of nutritional management Early diagnosis and management of IEM are essential. Newborn screening programs for IEM…

BBusiness

Uli-epic: profiling RNA modifications from ultra-low input samples | Genome Biology

November 11, 2025

McCown PJ, Ruszkowska A, Kunkler CN, Breger K, Hulewicz JP, Wang MC, et al. Naturally occurring modified ribonucleosides.…

BBusiness

The global burden of motor neuron disease: a systematic and additional analysis of global burden disease study 2021 | Orphanet Journal of Rare Diseases

November 10, 2025

Data source The GBD 2021 employed the most up-to-date epidemiological data, complemented by refined and standardized methodologies, to…

SScience

Clinical manifestations and treatment of peripheral odontogenic keratocysts: two cases and a literature review | Orphanet Journal of Rare Diseases

October 30, 2025

POKC is a particular type of OKC. Investigating the origin of POKC is critical, and its origin may…

BBusiness

Unlocking the regulatory code of RNA: launching the Human RNome Project | Genome Biology

October 24, 2025

The Human RNome Project aims to ensure consistent and reproducible outcomes in RNA sequencing and modification studies by…

GGenetics

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

October 22, 2025

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…

SScience

iNOME-seq: in vivo simultaneous genome-wide mapping of chromatin accessibility, nucleosome positioning, DNA-binding protein sites, and DNA methylation in Arabidopsis | Genome Biology

October 22, 2025

Plant lines and growth conditions The plant lines used in this study were derived from A. thaliana wild-type…

GGenetics

Modeling heterogeneity in single-cell perturbation states enhances detection of response eQTLs

October 21, 2025

Cohorts We used published data (GEO accession no. GSE162632) to study the effect of 12 h of ex vivo…

GGenetics

Genetics Sequencing - Precision Medicine - Abstract Illustration as EPS 10 File

October 20, 2025

Officially unveiled at the American Society of Human Genetics (ASHG) 2025 meeting held in Boston, Genomics has launched…

GGenetics

Redefining cellular reprogramming with advanced genomic technologies

October 18, 2025

Briggs, R. & King, T. J. Transplantation of living nuclei from blastula cells into enucleated Frogs’ eggs. Proc.…