120 results on '"Black, Graeme C.M."'
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2. Preface
3. Congenital hypertrophy of retinal pigment epithelium (CHRPE)
4. Contributors
5. Genetic disorders and genetic variants
6. Aniridia
7. Establishing Genotype–phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation
8. Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
9. Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling
10. The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens
11. MRSD: a quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
12. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
13. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization
14. Recessive mutations in the gene encoding the tight junction protein occluding cause band-like calcification with simplified gyration and polymicrogyria
15. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
16. Assessing the Pathogenicity of In-Frame CACNA1FIndel Variants Using Structural Modeling
17. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
18. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1
19. Biallelic mutation of BEST1 causes a distinct retinopathy in humans
20. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26
21. Delineation of cohen syndrome following a large-scale genotype-phenotype screen
22. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
23. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data
24. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
25. An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis
26. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
27. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
28. Prognosis for Splicing Factor PRPF8 Retinitis Pigmentosa, Novel Mutations and Correlation between Human and Yeast Phenotypes
29. Breast cancer susceptibility variants alter risks in familial disease
30. Inherited eye disease: cause and late effect
31. Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24
32. NAA10 polyadenylation signal variants cause syndromic microphthalmia
33. Characterization of a Familial t(16;22) Balanced Translocation Associated With Congenital Cataract Leads to Identification of a Novel Gene, TMEM114, Expressed in the Lens and Disrupted by the Translocation†
34. Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
35. A Subset of Patients With Epithelial Basement Membrane Corneal Dystrophy Have Mutations in TGFBI/BIGH3
36. Novel Phenotype of Craniosynostosis and Ocular Anterior Chamber Dysgenesis With a Fibroblast Growth Factor Receptor 2 Mutation
37. Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development
38. VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype
39. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
40. Evidence of Genetic Heterogeneity in MRCS (Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma) Syndrome
41. Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example
42. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
43. Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
44. Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
45. Mutations inSIPA1L3cause eye defects through disruption of cell polarity and cytoskeleton organization
46. 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate
47. ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
48. Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin
49. Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus
50. Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
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