Latest Research in Blood disorders and treatments

Top Research Topics in Blood disorders and treatments

• Genomics and Rare Diseases — 5 papers
• Blood disorders and treatments — 1 papers
• RNA regulation and disease — 1 papers
• Cardiomyopathy and Myosin Studies — 1 papers
• Congenital heart defects research — 1 papers
• Mitochondrial Function and Pathology — 1 papers
• Multiple Sclerosis Research Studies — 1 papers

Highest-Cited Papers

1. Why variant effect predictors and multiplexed assays agree and disagree (4 citations)
2. A yeast model for the functional analysis of SRP54 mutations associated with severe congenital neutropenia
3. Reproducible cross-aligner detection of the FMR1-217 junction across human cell contexts in public RNA-seq data
4. Early‐stage myocardial changes are not aggravated by Western diet or ageing in Mybpc3 c.2373insG heterozygous mice
5. A patient-derived missense mouse model of Kabuki syndrome 1
6. Multi-omics Mendelian randomization analysis prioritizes DNA methylation-related mitochondrial genes in congenital heart disease
7. A TaqMan-compatible 44-SNP barcode for robust sample tracking in research and clinical settings
8. Machine Learning Triage of LDLR Variants of Uncertain Significance Using Predictor Concordance and ACMG-Aligned Evidence Mapping
9. MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains
10. Plasma Lactate Response to a 12‐Min Walk Test Is a Poor Diagnostic Biomarker for Mitochondrial Myopathy
11. The locus coeruleus at the crossroads of inflammation and neurodegeneration in multiple sclerosis