A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…
Insights into ancestral diversity in Parkinson’s disease risk: a comparative assessment of polygenic risk scores
Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil Paula Saffie-Awad & Artur…
AAV gene therapy for autosomal recessive deafness 9: a single-arm trial
Chang, Q. et al. Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in…
How chemotherapy shapes hematopoietic stem cells
Welch, J. S. et al. Cell 150, 264–278 (2012). Article CAS PubMed PubMed Central Google Scholar Mitchell, E.…
Exercise therapy and self-management support for individuals with multimorbidity: a randomized and controlled trial
Study design This was a pragmatic, assessor-blinded, multicenter, parallel-group RCT (1:1 treatment allocation) with follow-up assessments at 4,…
Health effects associated with consumption of processed meat, sugar-sweetened beverages and trans fatty acids: a Burden of Proof study
Monteiro, C. A. et al. Ultra-processed foods: what they are and how to identify them. Public Health Nutr.…
Structural variants in the 3D genome as drivers of disease
Kaschta, D. et al. Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis. Preprint…
How and when organisms edit their own genomes
Lindahl, T. Instability and decay of the primary structure of DNA. Nature 362, 709–715 (1993). Article CAS PubMed …
Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank
Rush AJ, Trivedi MH, Wisniewski SR, Nierenberg AA, Stewart JW, Warden D, et al. Acute and Longer-Term Outcomes…
AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial
Study design and oversight This ongoing, nonrandomized, open-label, ascending-dose, phase 1b study (ClinicalTrials.gov registration no. NCT03362502) was initiated…