Human Genetics - United States News Beep

Gitam institute of medical sciences and research to organise CME on genes, morphology on August 22 | Vijayawada News

August 3, 2025

Visakhapatnam: The department of anatomy at Gitam institute of medical sciences and research (GIMSR) will organise a programme…

GGenetics

Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases

August 2, 2025

Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…

GGenetics

When ganglioside pathways go awry: congenital disorders and experimental insights

July 31, 2025

Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…

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Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice

July 30, 2025

GWAS identifies SBRR1 tightly associated with ShB resistance To investigate resistance to R. solani in rice, we evaluated…

GGenetics

Methods and applications of in vivo CRISPR screening

July 30, 2025

Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Google Scholar García-García,…

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NGLY1 deficiency - clinical features and therapeutic strategy

July 29, 2025

Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…

GGenetics

Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases

July 29, 2025

Clinical findings The patient is the second child of healthy, non-consanguineous parents, who first presented at the age…

GGenetics

Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches

July 28, 2025

Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article Google Scholar Shaw CJ,…

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Towards improved fine-mapping of candidate causal variants

July 28, 2025

Visscher, P. M. et al. 10 years of GWAS discovery: biology, function, and translation. Am. J. Hum. Genet.…

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Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle

July 22, 2025

Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…

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Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

July 21, 2025

Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…

GGenetics

Viromics approaches for the study of viral diversity and ecology in microbiomes

July 21, 2025

Koonin, E. V., Kuhn, J. H., Dolja, V. V. & Krupovic, M. Megataxonomy and global ecology of the…