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365 results on '"Andrew R Webster"'

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1. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

2. Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

3. Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

4. Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

5. Prevalence of electronegative electroretinograms in a healthy adult cohort

6. Retinal detachment in retinitis pigmentosa

7. Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

8. Making Deep Learning Models Clinically Useful - Improving Diagnostic Confidence in Inherited Retinal Disease with Conformal Prediction.

9. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

10. RP2-Associated X-linked Retinopathy

12. Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

13. MONOZYGOTIC TWINS DISCORDANT FOR ASYMMETRIC PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY

14. Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

15. Reply

17. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

18. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

19. Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

20. RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History

21. WFS1-Associated Optic Neuropathy : Genotype-Phenotype Correlations and Disease Progression

22. SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease

23. A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome

24. A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome

25. Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4

26. Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

27. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

28. KCNV2-Associated Retinopathy

29. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

30. Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)

31. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History

32. Autosomal Recessive Bestrophinopathy

34. Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia

35. Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

37. Macula-predominant retinopathy associated with biallelic variants in RDH12

38. A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

39. Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches

40. Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness – Evaluation of Predicting Parameters

41. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

42. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

43. Delivering distribution system flexibility through micro-resilience

44. SLC38A8 mutation spectrum in foveal hypoplasia

46. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

47. Panel‐based genetic testing for inherited retinal disease screening 176 genes

48. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

49. A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype

50. An association between stellate nonhereditary idiopathic foveomacular retinoschisis, peripheral retinoschisis and posterior hyaloid attachment

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