Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders
Ng, S. B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35…
Access to digital health technologies: personalized framework and global perspectives
World Health Organization. Fifty-Eighth World Health Assembly. Geneva, 16–25 May 2005: Resolutions and Decisions Annex. WHO iris.who.int/bitstream/handle/10665/20398/A58_2005_REC1-en.pdf?sequence=1&isAllowed=y (2005).…
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionals | Orphanet Journal of Rare Diseases
Of the 125 participants who began the survey (provided demographic information), 103 completed the survey and provided information…
Mapping trait-associated cells with spatial transcriptomics
Genome-wide association studies (GWAS) have uncovered numerous genetic variants associated with complex traits. However, a critical gap remains…
Entanglement accelerates quantum simulation | Nature Physics
Amico, L., Fazio, R., Osterloh, A. & Vedral, V. Entanglement in many-body systems. Rev. Mod. Phys. 80, 517–576…
Deep adaptive learning predicts and diagnoses CSVD-related cognitive decline using radiomics from T2-FLAIR: a multi-centre study
Patient enrolment and baseline characteristics A total of 783 subjects from three cohorts were included (Fig. S1) and…
How Will Todd Monken Maximize Ravens’ Deep Arsenal?
How do the Ravens incorporate other young talents? Beyond the projected starters, the Ravens have a number of…
The importance of funding and investment to strengthen data science in Africa
Data science (DS) plays a transformative role in advancing scientific discovery and informing policy by enabling the systematic…
Reshaping transplantation with AI, emerging technologies and xenotransplantation
Bozkurt, B. et al. Heart failure epidemiology and outcomes statistics: a report of the Heart Failure Society of…
The potential of multidimensional photonic computing
Mehonic, A. & Kenyon, A. J. Brain-inspired computing needs a master plan. Nature 604, 255–260 (2022). Article ADS …
Characterizing aging-related genetic and physiological determinants of spinal curvature
Study population: the UK Biobank The UK Biobank (UKBB) recruited 503,000 community-based adult volunteers aged 40-69 from 2006-2010…
Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series | Journal of Medical Case Reports
Case 1 Case 1 involved a 6-year-old boy who was born full-term via normal vaginal delivery with a…