13 results on '"Rowlands, Charlie F"'
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2. Utility of polygenic risk scores in UK cancer screening: a modelling analysis
3. Saturation genome editing of BAP1functionally classifies somatic and germline variants
4. Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome
5. Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21
6. Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
7. Re‐evaluation of missense variant classifications in NF2
8. MRSD: a quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
9. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
10. Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
11. Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
12. Disease modeling of core pre-mRNA splicing factor haploinsufficiency
13. Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
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