19 results on '"Rowlands, Charlie"'
Search Results
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. BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
11. BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
12. Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
13. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
14. Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
15. Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
16. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
17. BBS1branchpoint variant is associated with non-syndromic retinitis pigmentosa
18. Disease modeling of core pre-mRNA splicing factor haploinsufficiency
19. Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
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