Tamoxifen induces PI3K activation in uterine cancer
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents
Heller DA, de Faire U, Pedersen NL, Dahlen G, McClearn GE. Genetic and environmental influences on serum lipid…
Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy
van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
Pangenome analysis provides insights into legume evolution and breeding
Foyer, C. H. et al. Neglecting legumes has compromised human health and sustainable food production. Nat. Plants 2,…
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Google Scholar García-García,…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cohort characteristics and model risk score distribution The study cohort comprised 92,493 patients enrolled in the DT Biobank…