295 results on '"Ramsden, Simon"'
Search Results
2. Recommendations for clinical interpretation of variants found in non-coding regions of the genome
3. Genomic education and training for clinical laboratory workforce
4. Contributors
5. Contributors
6. Genetic variant interpretation
7. Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene
8. Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar
9. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
10. Understanding the impact of genetic testing for inherited retinal dystrophy
11. First Subsidy Control Challenge Dismissed
12. Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation
13. Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
14. Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
15. Clinical and genetic variability in children with partial albinism
16. A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
17. Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
18. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
19. Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling
20. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
21. Additional file 2 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome
22. Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS
23. Recommendations for clinical interpretation of variants found in non-coding regions of the genome
24. Embryonal sarcoma of the liver in a girl with Cockayne syndrome
25. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods
26. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
27. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods.
28. 3. NEXT GENERATION SEQUENCING FOR CONGENITAL CATARACTS: A NEW CLINICAL UTILITY: 1803
29. Assessing the Pathogenicity of In-Frame CACNA1FIndel Variants Using Structural Modeling
30. Improving the clinical interpretation of missense variants in X linked genes using structural analysis.
31. Improving the clinical interpretation of missense variants in X linked genes using structural analysis
32. Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
33. Update of the EMQN / ACGS best practice Guidelines for Molecular Analysis of Prader-Willi and Angelman Syndromes
34. Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero
35. Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies
36. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
37. Understanding the expectations of patients with inherited retinal dystrophies
38. Fragile X syndrome testing in the North West
39. The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation
40. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
41. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
42. Severe Neonatal-Onset Panniculitis in a Female Infant With Prader-Willi Syndrome
43. A pragmatic randomized controlled trial of thiopurine methyltransferase genotyping prior to azathioprine treatment: the TARGET study
44. VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype
45. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
46. External quality assessment schemes for real-time PCR: a statistical procedure to corrective actions
47. RPGR Mutation Analysis and Disease: An Update
48. Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
49. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
50. Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
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