Tracing the evolution of single-cell 3D genomes in Kras-driven cancers
Ethics Statement All animal studies were approved by the Institutional Animal Care and Use Committee of Yale University.…
Neurobehavioral profile of individuals with pathogenic variants in CHD3
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…
Developments in diagnostic and surgical techniques in children with sagittal suture craniosynostosis: a systematic review spanning the last 30Â years | Orphanet Journal of Rare Diseases
Literature search and study selection An initial search using the search terms related to the operative technique yielded…
A Society-to-Cells approach to evaluating multilevel and interrelated drivers of breast cancer disparities in Black women
Miller, K. D. et al. Cancer treatment and survivorship statistics, 2019. CA Cancer J. Clin. 69, 363–385 (2019).…
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes
Uffelmann, E. et al. Genome-wide association studies. Nat. Rev. Methods Prim. 1, 59 (2021). CAS Google Scholar Visscher,…
Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states
Regev, A. et al. The human cell atlas. eLife 6, e27041 (2017). PubMed PubMed Central Google Scholar Karlsson,…
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness | Orphanet Journal of Rare Diseases
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel…
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas
GBD Chronic Kidney Disease Collaboration Global, regional, and national burden of chronic kidney disease, 1990–2017: a systematic analysis…
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 …
Clinical features and rare complications in 132 patients with hepatic glycogenosis | Orphanet Journal of Rare Diseases
The overall incidence of GSDs is approximately 1 case per 20,000–43,000 live births, and 80% of hepatic GSDs…
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Fogg, C. et al. The dynamics of frailty development and progression in older adults in primary care in…