Alan Frazer Wright
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(Suggest an Edit or Addition)Alan Frazer Wright's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
- Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
- New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
- Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
- Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
- Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk (2011) (1928)
- Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
- Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
- Genome-wide association study identifies 74 loci associated with educational attainment (2016) (1114)
- Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts (2009) (909)
- Runs of homozygosity in European populations. (2008) (902)
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
- GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment (2013) (803)
- Complement C3 variant and the risk of age-related macular degeneration. (2007) (778)
- Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways (2012) (758)
- A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance (2012) (756)
- New loci associated with kidney function and chronic kidney disease (2010) (754)
- Seven New Loci Associated with Age-Related Macular Degeneration (2013) (741)
- SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout (2008) (728)
- Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans (2015) (724)
- Genome-wide association analyses identify 18 new loci associated with serum urate concentrations (2012) (678)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
- Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations (2009) (617)
- Meta-analysis and imputation refines the association of 15q25 with smoking quantity (2010) (605)
- Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
- Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait (2010) (564)
- Genome-wide association study identifies five loci associated with lung function (2010) (560)
- The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
- A General Approach for Haplotype Phasing across the Full Spectrum of Relatedness (2014) (482)
- Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) (477)
- A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3) (1996) (477)
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate (2000) (463)
- Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
- Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
- Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (421)
- FTO genotype is associated with phenotypic variability of body mass index (2012) (407)
- Genome-wide association and large scale follow-up identifies 16 new loci influencing lung function (2011) (401)
- Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa (2000) (401)
- High Throughput Isolation and Glycosylation Analysis of IgG–Variability and Heritability of the IgG Glycome in Three Isolated Human Populations* (2011) (400)
- Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function (2016) (388)
- Multi-system neurological disease is common in patients with OPA1 mutations (2010) (384)
- Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (2013) (379)
- Population choice in mapping genes for complex diseases (1999) (375)
- Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction (2010) (345)
- Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium (2010) (344)
- Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949) (2015) (328)
- Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study (2014) (318)
- Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile (2011) (313)
- Large-scale genomic analyses link reproductive ageing to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair (2015) (308)
- Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers (2013) (307)
- Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28 (1984) (291)
- Application of high-dimensional feature selection: evaluation for genomic prediction in man (2015) (282)
- A Comprehensive Evaluation of Potential Lung Function Associated Genes in the SpiroMeta General Population Sample (2011) (281)
- Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus (2013) (279)
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 (2001) (270)
- Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases (2012) (263)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- Mortality in women with turner syndrome in Great Britain: a national cohort study. (2008) (256)
- Genome-wide analysis identifies 12 loci influencing human reproductive behavior (2016) (250)
- New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk (2016) (242)
- Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability (2006) (240)
- A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. (2002) (229)
- Ageing: Cognitive change and the APOE ɛ4 allele (2002) (228)
- Genomics Meets Glycomics—The First GWAS Study of Human N-Glycome Identifies HNF1α as a Master Regulator of Plasma Protein Fucosylation (2010) (224)
- Mortality in patients with Klinefelter syndrome in Britain: a cohort study. (2005) (223)
- Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. (2005) (223)
- Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. (2002) (217)
- Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans. (2010) (214)
- Variability, heritability and environmental determinants of human plasma N-glycome. (2009) (212)
- The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration (2002) (211)
- RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. (2003) (208)
- Genetic evidence of assortative mating in humans (2017) (199)
- Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations (2009) (199)
- Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) (1998) (195)
- Homozygous SLC2A9 mutations cause severe renal hypouricemia. (2010) (192)
- Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
- Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations (2012) (181)
- Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function (2012) (180)
- Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. (2003) (179)
- The brain-derived neurotrophic factor Val66Met polymorphism is associated with age-related change in reasoning skills (2006) (177)
- Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. (2012) (176)
- Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. (2008) (173)
- The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders. (2010) (171)
- A polygenic basis for late-onset disease. (2003) (165)
- RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins* (2005) (162)
- Genome-wide association analysis identifies multiple loci related to resting heart rate. (2010) (154)
- Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (153)
- The epidemiology and socioeconomic associations of retinal detachment in Scotland: a two-year prospective population-based study. (2010) (152)
- Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways (2012) (150)
- Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits (2017) (149)
- Meta-analyses identify 13 novel loci associated with age at menopause and highlights DNA repair and immune pathways (2011) (149)
- Comparative Performance of Four Methods for High-throughput Glycosylation Analysis of Immunoglobulin G in Genetic and Epidemiological Research* (2014) (145)
- No linkage of chromosome 5q11-q13 markers to schizophrenia in Scottish families (1989) (144)
- Directional dominance on stature and cognition in diverse human populations (2015) (144)
- New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. (2010) (143)
- Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (2013) (143)
- Inbreeding and risk of late onset complex disease (2003) (143)
- Genome-wide association analysis identifies six new loci associated with forced vital capacity (2014) (141)
- Molecular genetic contributions to socioeconomic status and intelligence (2014) (136)
- Complement C 3 Variant and the Risk of Age-Related Macular Degeneration (2007) (136)
- Multiethnic Meta-Analysis of Genome-Wide Association Studies in >100 000 Subjects Identifies 23 Fibrinogen-Associated Loci but No Strong Evidence of a Causal Association Between Circulating Fibrinogen and Cardiovascular Disease (2013) (133)
- Identification of a novel protein interacting with RPGR. (2000) (131)
- Meta-Analysis of Genome-Wide Association Studies Identifies Six New Loci for Serum Calcium Concentrations (2013) (130)
- Evidence of association of APOE with age‐related macular degeneration ‐ a pooled analysis of 15 studies (2011) (130)
- Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. (1997) (127)
- The Association of Dietary Intake of Purine-Rich Vegetables, Sugar-Sweetened Beverages and Dairy with Plasma Urate, in a Cross-Sectional Study (2012) (126)
- GWAS for executive function and processing speed suggests involvement of the CADM2 gene (2016) (125)
- The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. (1999) (125)
- RPGR mutation analysis and disease: an update (2007) (124)
- Organic carbon, total carbon, and total nitrogen determinations in soils of variable calcium carbonate contents using a Leco CN-2000 dry combustion analyzer (2001) (123)
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). (2003) (123)
- Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
- Genome‐wide association uncovers shared genetic effects among personality traits and mood states (2012) (121)
- Recent insights into the pathogenesis of hyperuricaemia and gout. (2009) (120)
- Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traits. (2007) (119)
- Inbreeding and the genetic complexity of human hypertension. (2003) (115)
- Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome (2004) (111)
- Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation (2015) (110)
- The predisposing pathology and clinical characteristics in the Scottish retinal detachment study. (2011) (110)
- Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants (2017) (109)
- A 'complexity' of urate transporters. (2010) (109)
- RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. (2005) (109)
- Renal, cardiovascular and hormonal characteristics of young adults with autosomal dominant polycystic kidney disease. (1991) (108)
- Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin (2014) (106)
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
- Lifespan and mitochondrial control of neurodegeneration (2004) (104)
- Complement component C3 and risk of age-related macular degeneration. (2008) (103)
- Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies (2012) (102)
- Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. (2009) (102)
- Localising Loci underlying Complex Trait Variation Using Regional Genomic Relationship Mapping (2012) (102)
- Common variant at 16p11.2 conferring risk of psychosis (2014) (100)
- Complex genetic diseases: controversy over the Croesus code (2001) (100)
- Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. (2004) (99)
- 52 Genetic Loci Influencing Myocardial Mass. (2016) (98)
- KLOTHO genotype and cognitive ability in childhood and old age in the same individuals (2005) (98)
- Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error (2016) (98)
- Estimating Human Inbreeding Coefficients: Comparison of Genealogical and Marker Heterozygosity Approaches (2006) (96)
- Complement factor D in age-related macular degeneration. (2011) (96)
- The functional COMT polymorphism, Val158Met, is associated with logical memory and the personality trait intellect/imagination in a cohort of healthy 79 year olds (2005) (94)
- Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. (2011) (93)
- Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile (2013) (92)
- Pitfalls in homozygosity mapping. (2000) (92)
- Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa (1998) (90)
- RPGR: Its role in photoreceptor physiology, human disease, and future therapies (2015) (88)
- Automation of genetic linkage analysis using fluorescent microsatellite markers. (1994) (85)
- Searching for genetic influences on normal cognitive ageing (2004) (85)
- Mutations of RPGR in X‐linked retinitis pigmentosa (RP3) (2002) (84)
- Intrafamilial variation of the phenotype in Bardet–Biedl syndrome (1997) (83)
- Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. (2014) (83)
- Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration (2013) (82)
- Apolipoprotein e gene variability and cognitive functions at age 79: a follow-up of the Scottish mental survey of 1932. (2004) (82)
- Surgical outcome and risk stratification for primary retinal detachment repair: results from the Scottish Retinal Detachment study (2012) (81)
- A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition (2007) (81)
- Evidence of Inbreeding Depression on Human Height (2012) (81)
- 3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia (2006) (81)
- Genome-wide association study of biochemical traits in Korcula Island, Croatia. (2009) (80)
- Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals (2022) (80)
- Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium (2016) (80)
- Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. (2012) (79)
- PATHOGENESIS OF RHEGMATOGENOUS RETINAL DETACHMENT: Predisposing Anatomy and Cell Biology (2010) (78)
- Genome-wide linkage analysis of serum creatinine in three isolated European populations. (2009) (78)
- Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults. (2011) (78)
- Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. (2011) (78)
- Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
- Cancer Incidence and Mortality in Men With Klinefelter Syndrome: A Cohort Study (2006) (76)
- The Eysenck personality factors: Psychometric structure, reliability, heritability and phenotypic and genetic correlations with psychological distress in an isolated Croatian population (2007) (76)
- Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways (2011) (76)
- Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium (2012) (75)
- Genome-wide Studies of Verbal Declarative Memory in Nondemented Older People: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (2015) (75)
- Effects of angiotensin converting enzyme inhibition in adult polycystic kidney disease. (1992) (75)
- Discovery and fine mapping of serum protein loci through transethnic meta-analysis. (2012) (75)
- A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. (2016) (75)
- A Genome-Wide Association Scan of RR and QT Interval Duration in 3 European Genetically Isolated Populations: The EUROSPAN Project (2009) (72)
- Using human induced pluripotent stem cells to treat retinal disease☆ (2013) (72)
- Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia (2015) (71)
- Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. (1990) (69)
- Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. (2012) (67)
- Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. (2013) (67)
- Focus on Molecules: RPGR. (2007) (67)
- Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1). (1994) (66)
- A saturated map of common genetic variants associated with human height (2022) (65)
- Uncovering Networks from Genome-Wide Association Studies via Circular Genomic Permutation (2012) (65)
- Genome-wide association study identifies 48 common genetic variants associated with handedness (2019) (65)
- Genetic Predictors of Fibrin D-Dimer Levels in Healthy Adults (2011) (63)
- Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. (2000) (63)
- Modeling of Environmental Effects in Genome-Wide Association Studies Identifies SLC2A2 and HP as Novel Loci Influencing Serum Cholesterol Levels (2010) (63)
- Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. (2006) (62)
- Linkage and Genome‐wide Association Analysis of Obesity‐related Phenotypes: Association of Weight With the MGAT1 Gene (2010) (62)
- Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. (2001) (62)
- Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder (2015) (61)
- A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities (2004) (61)
- Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene (2009) (60)
- MR-PheWAS: exploring the causal effect of SUA level on multiple disease outcomes by using genetic instruments in UK Biobank (2018) (60)
- Photoreceptor Rescue by an Abbreviated Human RPGR Gene in a Murine Model of X-linked Retinitis Pigmentosa (2015) (60)
- A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape (2016) (59)
- RPGR-associated retinal degeneration in human X-linked RP and a murine model. (2012) (59)
- Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2020) (58)
- Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. (2014) (58)
- The role of RPGR in cilia formation and actin stability. (2011) (56)
- Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease (2010) (56)
- A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level (2010) (55)
- Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (2013) (55)
- Genetic influences on oxidative stress and their association with normal cognitive ageing (2005) (54)
- Long-term visual acuity and the duration of macular detachment: findings from a prospective population-based study (2012) (54)
- Bayesian methods for instrumental variable analysis with genetic instruments (‘Mendelian randomization’): example with urate transporter SLC2A9 as an instrumental variable for effect of urate levels on metabolic syndrome (2010) (52)
- Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. (2015) (51)
- Genome-Wide Association Study to Identify Common Variants Associated with Brachial Circumference: A Meta-Analysis of 14 Cohorts (2012) (50)
- Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson’s Disease (2011) (50)
- Common aberrations from the normal human plasma N-glycan profile. (2010) (49)
- Contribution of consanguinuity to polygenic and multifactorial diseases (2006) (48)
- Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models (2017) (48)
- Temporal trends in retinal detachment incidence in Scotland between 1987 and 2006 (2010) (47)
- The TCF7L2 Diabetes Risk Variant is Associated with HbA1C Levels: a Genome‐Wide Association Meta‐Analysis (2010) (46)
- Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. (2003) (46)
- Genetic and physical mapping around the properdin P gene. (1991) (45)
- Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. (2011) (45)
- Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. (2012) (45)
- Genome-Wide Meta-Analysis of Myopia and Hyperopia Provides Evidence for Replication of 11 Loci (2014) (45)
- DNA mismatch repair gene MSH6 implicated in determining age at natural menopause (2013) (44)
- Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes. (2010) (44)
- Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels (2015) (43)
- Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. (1987) (43)
- Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. (2003) (42)
- Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. (1990) (42)
- Identification of a 5′ splice site mutation in the RPGR gene in a family with X‐linked retinitis pigmentosa (RP3) (1999) (41)
- A searchlight through the fog (1997) (41)
- Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (2009) (40)
- Genome-Wide Association Study for Circulating Tissue Plasminogen Activator Levels and Functional Follow-Up Implicates Endothelial STXBP5 and STX2 (2014) (39)
- Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. (2013) (38)
- Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. (2011) (38)
- Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (2005) (38)
- Lack of association between polymorphisms in angiotensin-converting-enzyme and methylenetetrahydrofolate reductase genes and normal cognitive ageing in humans (2003) (38)
- Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. (2001) (38)
- Increased level of linkage disequilibrium in rural compared with urban communities: a factor to consider in association-study design. (2005) (37)
- The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (2002) (37)
- A simple method for rapid isolation of microsatellites from yeast artificial chromosomes. (1995) (37)
- Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
- Epigenetic silencing of HNF1A associates with changes in the composition of the human plasma N-glycome (2012) (36)
- Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration (2008) (36)
- Association of medication with the human plasma N-glycome. (2012) (35)
- Common variants in Mendelian kidney disease genes and their association with renal function. (2013) (35)
- Inflammatory biomarkers for AMD. (2014) (35)
- Identity-by-Descent-Based Phasing and Imputation in Founder Populations Using Graphical Models (2011) (34)
- Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data (2010) (33)
- Variation in the uric acid transporter gene (SLC2A9) and memory performance. (2010) (33)
- The power of regional heritability analysis for rare and common variant detection: simulations and application to eye biometrical traits (2013) (33)
- Genome-wide analysis of epistasis in body mass index using multiple human populations (2012) (32)
- OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS (2008) (32)
- Copy Number Variation across European Populations (2011) (32)
- Genome-wide meta-analysis of common variant differences between men and women (2012) (31)
- Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome. (2009) (31)
- No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity. (1990) (31)
- Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. (2016) (30)
- Quantifying the increase in average human heterozygosity due to urbanisation (2008) (30)
- Human population structure, genome autozygosity and human health (2009) (30)
- Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study (2007) (29)
- Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models (2015) (29)
- Complement factor h autoantibodies and age-related macular degeneration. (2010) (29)
- Long-term effects of retinal gene therapy in childhood blindness. (2015) (29)
- Genetic variants in RBFOX3 are associated with sleep latency (2016) (29)
- Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration (2017) (29)
- ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. (2013) (28)
- Genetic variation in complement regulators and susceptibility to age-related macular degeneration (2012) (28)
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium (2014) (28)
- Genes predict village of origin in rural Europe (2010) (28)
- Do organellar genomes function as long-term redox damage sensors? (2009) (28)
- Population-based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachment. (2011) (28)
- A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy. (2000) (27)
- Maternal histidine metabolism and its effect on foetal development in the mouse (1977) (27)
- Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity. (1990) (27)
- Genetic Variation: Polymorphisms and Mutations (2005) (26)
- Homozygous loss-of-function variants in European cosmopolitan and isolate populations (2015) (26)
- Heritabilities of ocular biometrical traits in two croatian isolates with extended pedigrees. (2010) (26)
- Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. (1996) (26)
- Mutations in HNF 1 A Result in Marked Alterations of Plasma Glycan Pro fi le (2013) (25)
- A microdeletion in Xp11.3 accounts for co‐segregation of retinitis pigmentosa and mental retardation in a large kindred (2006) (24)
- The human retinitis pigmentosa GTPase regulator gene variant database (2008) (24)
- No evidence of association between complement factor I genetic variant rs10033900 and age-related macular degeneration (2011) (24)
- Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. (2006) (23)
- New insights into genetic eye disease. (1992) (23)
- Adult polycystic kidney disease. (1990) (23)
- Beta amyloid resurrected (1991) (22)
- Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing (1994) (22)
- Regional heritability mapping method helps explain missing heritability of blood lipid traits in isolated populations (2015) (22)
- Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences. (2014) (22)
- Genome-wide association studies: applications and insights gained in Ophthalmology (2014) (21)
- Major progress in Fuchs's corneal dystrophy. (2010) (21)
- Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration (2011) (20)
- Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
- Gene therapy for the eye (1997) (20)
- Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. (1991) (20)
- Adaptive evolution of G-protein coupled receptor genes. (1989) (20)
- A genetic linkage study of a kindred with X-linked retinitis pigmentosa. (1985) (20)
- Education and attitudes in families with adult polycystic kidney disease. (1991) (19)
- Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits (2020) (19)
- A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families (2004) (19)
- Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. (1997) (19)
- Neurogenetics II: complex disorders (2005) (18)
- Inference of identity by descent in population isolates and optimal sequencing studies (2013) (18)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
- Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain (2005) (17)
- Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration. (2009) (17)
- Genome-Wide Association Study for Circulating Tissue Plasminogen Activator Levels and Functional Follow-Up Implicates Endothelial STXBP 5 and STX 2 (2014) (17)
- Local Exome Sequences Facilitate Imputation of Less Common Variants and Increase Power of Genome Wide Association Studies (2013) (16)
- Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene. (1992) (16)
- Characterisation of Genome-Wide Association Epistasis Signals for Serum Uric Acid in Human Population Isolates (2011) (16)
- Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB – FKBPL – NOTCH 4 region of chromosome 6 p 21 . 3 (2012) (16)
- Molecular Genetics of Inherited Eye Disorders (1994) (16)
- The fellow eye in retinal detachment: findings from the Scottish Retinal Detachment Study (2011) (16)
- Rhegmatogenous retinal detachment in Scotland: research design and methodology (2009) (16)
- Developmental and tissue expression of Xenopus laevis RPGR. (2006) (15)
- X-Linked Retinitis Pigmentosa: Current Status (2001) (15)
- Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits (2011) (15)
- Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16. (1987) (15)
- A common biological basis of obesity and nicotine addiction (2019) (14)
- Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene. (2015) (14)
- Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
- A study of genetic linkage heterogeneity in adult polycystic kidney disease (1987) (13)
- Determinants of retinal microvascular features and their relationships in two European populations (2017) (13)
- Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. (2006) (13)
- Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations. (2018) (13)
- PCR detection of existing and new polymorphism at the TIMP locus. (1991) (13)
- A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. (1996) (12)
- Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. (2018) (12)
- High-throughput glycome analysis is set to join high-throughput genomics. (2009) (12)
- Runs of Homozygosity in European Populations (DOI: 10.1016/j.ajhg.2008.08.007) (2008) (12)
- A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies (2011) (11)
- Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. (1994) (11)
- Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16. (1992) (11)
- Cancer risk in patients with constitutional chromosome deletions: a nationwide British cohort study (2008) (10)
- Strategy for mapping quantitative trait loci (QTL) by using human metapopulations. (2006) (10)
- Whole-exome sequencing in an isolated population from the Dalmatian island of Vis (2016) (10)
- Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium (2012) (10)
- Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics. (2009) (10)
- Cation transport in lymphoblastoid cell lines established from bipolar manic-depressive patients. (1989) (10)
- X-linked congenital stationary night blindness: review and report of a family with hyperopia. (1991) (9)
- Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (9)
- Exome Sequencing to Detect Rare Variants Associated With General Cognitive Ability: A Pilot Study (2015) (9)
- Chapter 5 Towards the identification of genes in X-linked retinitis pigmentosa (1990) (9)
- SNP mistyping in genotyping arrays—an important cause of spurious association in case‐control studies (2011) (9)
- Genetic Comparison of a Croatian Isolate and CEPH European Founders (2010) (9)
- The diagnosis of autosomal dominant late-onset retinal degeneration in two sisters (2003) (8)
- Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
- Inbreeding and Risk of Complex Chronic Diseases (2019) (8)
- Genome-wide association study identifies FUT8 and ESR2 as co-regulators of a bi-antennary N-linked glycan A2 (GlcNAc~2~Man~3~GlcNAc~2~) in human plasma proteins (2009) (8)
- Genetic and Epidemiological Study of Autosomal Dominant (ADRP) and Autosomal Recessive (ARRP) Retinitis Pigmentosa in Sardinia (1993) (8)
- Papillorenal syndrome in a family with unusual complications (2013) (7)
- European Gene Mapping Project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families (1996) (7)
- Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 {L1.28}: further linkage data, heterogeneity testing, and risk estimation (1986) (7)
- Functional characterization of the human RPGR proximal promoter. (2012) (7)
- A genome‐wide search for linkage in a large bipolar family: comparison of genotyping accuracy using di- and tetranucleotide repeat microsatellite markers (1996) (7)
- Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study (2008) (7)
- Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C (2015) (6)
- Comparison of the properties of histidine ammonia-lyase in normal and histidinemic mutant mice (1982) (6)
- UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 ) (2003) (6)
- AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - EVIDENCE FOR AT LEAST 2 GENETIC-LOCI (1990) (6)
- Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011) (2011) (6)
- Use of induced pluripotent stem-cell technology to understand photoreceptor cytoskeletal dynamics in retinitis pigmentosa (2015) (6)
- Familial Alzheimer's disease. Beta amyloid resurrected. (1991) (6)
- Genetic Factors in Down’s Syndrome and Their Possible Role in the Pathogenesis of Alzheimer’s Disease (1985) (6)
- Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (6)
- Short cut to disease genes. (2001) (6)
- An STR polymorphism at the CYBB locus. (1993) (6)
- Lipidomics, Atrial Conduction, and Body Mass Index. (2019) (6)
- Strategies for mapping susceptibility genes in age-related maculopathy (2001) (5)
- Erratum: Cognitive change and the APOE A allele (vol 418, pg 932, 2002) (2002) (5)
- The APOE 4 allele and cognitive change from age 11 to age 80 (2002) (5)
- Linkage analysis‐in a family with complete type congenital stationary night blindness with and without myopia (1993) (5)
- Genetic linkage analysis in 26 families with Bardet-Biedl syndrome (1994) (5)
- Unilateral retinitis pigmentosa occurring in an individual with a mutation in the CLRN1 gene (2018) (5)
- Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study (2018) (5)
- The chromosome 10q26 susceptibility locus in age-related macular degeneration. (2012) (5)
- DNA analysis in human disease. (1986) (5)
- A genetic linkage study of choroideremia. (1986) (5)
- Effects of MitoQ and Sod2 on Rates of Retinal Degeneration in Rd1, Atrd1, Rho–/– and Rds Mutant Mice (2006) (5)
- Does inbreeding affect N-glycosylation of human plasma proteins? (2011) (5)
- A quantitative trait locus for SBP maps near KCNB1 and PTGIS in a population isolate. (2009) (4)
- X-Linked Retinal Dystrophies and Microtubular Functions Within the Retina (2007) (4)
- Genes and Common Diseases: Index (2007) (4)
- Comprar Genes and Common Diseases | Alan Wright | 9780521833394 | Cambridge University Press (2007) (4)
- Individual multi-locus heterozygosity is associated with lower morning plasma cortisol concentrations. (2013) (4)
- Recombination patterns around the breakpoints of a balanced 1;11 autosomal translocation associated with major mental illness (1996) (4)
- Genome-wide association study identifies 48 common genetic variants associated with handedness (2020) (4)
- The First Genome Wide Association Study of Human Glycome Identifies HNF1 alpha as a Master Regulator of Plasma Protein Fucosylation (2010) (4)
- Mortality and cancer incidence in carriers of constitutional t(11;22)(q23;q11) translocations: A prospective study (2019) (4)
- Linkage studies and deletion screening in choroideremia. (1990) (4)
- Genes and common diseases: genetics in modern medicine. (2007) (4)
- Remapping of the RP 15 Locus for X-Linked Cone-Rod Degeneration to Xp 11 . 4p 21 . 1 , and Identification of a De Novo Insertion in the RPGR Exon ORF 15 (4)
- Myosin diversity and disease. (1996) (4)
- For want of a disc, the cell was lost…. (2000) (4)
- DNA probes in X-linked retinitis pigmentosa. (1983) (4)
- Proteome-by-phenome Mendelian Randomisation detects 38 proteins with causal roles in human diseases and traits (2019) (4)
- Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. (1998) (4)
- Automated linkage analysis in psychiatric disorders. (1995) (3)
- Regional heritability mapping for the dissection of complex traits (2012) (3)
- Using Haplotype Mapping to Uncover the Missing Heritability: A Simulation Study (2014) (3)
- GENETIC LOCALIZATION OF RP2 IN 6 X-LINKED RETINITIS-PIGMENTOSA FAMILIES (1991) (3)
- immunoglobulin G in genetic and epidemiological research (2014) (3)
- C1QTNF5, which is mutated in late-onset retinal macular degeneration, interacts with complement factor H (2007) (3)
- Mutants: On the Form, Varieties and Errors of the Human Body. A. M. Leroi Harper Collins Publishers. 2003. 431 pages. ISBN 0 00 257113 7. Price £30.00 (hardback). (2005) (2)
- BETA-ADRENOCEPTOR BINDING DEFECTS IN LYMPHOBLASTOID CELL LINES FROM MANIC-DEPRESSIVE SUBJECTS (1984) (2)
- Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
- Complement C3 variant increases risk of age-related macular degeneration (2007) (2)
- Retina Cone Vision Changes in the Enhanced SCone Syndrome Caused by NR 2 E 3 Gene Mutations (2018) (2)
- DXS26 (HU16) is located in Xq21.1 (1990) (2)
- Chemistry: An end to the protection racket (2001) (2)
- A MILEAGE CHART OF PART OF THE X-CHROMOSOME (1987) (2)
- Genomics of common diseases: approaching the tipping point (2011) (2)
- Leptin and Leptin Receptor Gene Variation and Human Obesity (2009) (2)
- Genome-Wide Association Studies Identify Disease Mechanisms in Age-Related Macular Degeneration. (2018) (2)
- The delta subunit of rod phosphodiesterase interacts with the RCC1 homologous domain of RPGR (1998) (2)
- RPGRIP1 mutations in juvenile retinitis pigmentosa: a linkage and mutation study. (2004) (2)
- Genetic Studies in Autosomal Recessive Forms of Retinitis Pigmentosa (1995) (2)
- A study of genetic linkage heterogeneity in adult polycystic kidney disease. (1987) (2)
- Evidence That the HTRA1 Interactome Influences Susceptibility to Age-Related Macular Degeneration (2011) (2)
- Mapping common disease genes (2007) (2)
- Qtl Mapping for Eye Biometrical Traits (2008) (2)
- The genetics of common skin diseases (2007) (1)
- Genetics of forced vital capacity: genome-wide association study meta-analysis and follow-up identifies six new loci (2014) (1)
- Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability (2021) (1)
- Di V erence between RP 2 and RP 3 phenotypes in X linked retinitis pigmentosa (1999) (1)
- The serine protease HTRA1 is a potential regulator of the inflammatory cytokine GDF15 (2013) (1)
- Risk calculation in retinitis pigmentosa. (1991) (1)
- Phenotype of Heterozygotes with Mutations in the ORF 15 (Open Reading Frame 15) of RPGR (2003) (1)
- Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes (2017) (1)
- Biochemical Evidence of Pathogenetic Overlap Between Late Onset Retinal Macular Degeneration and Age-Related Macular Degeneration (2007) (1)
- High-Throughput HPLC-based N-Glycan Analysis of Human Plasma Proteins Identifies Potential Biomarkers for Maturity Onset Diabetes of the Young (MODY) (2011) (1)
- The EUROGEM map of human chromosome 18. (1994) (1)
- Genome-wide association and large scale follow-up identifies 16 novel loci for lung function (2011) (1)
- Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus. (1990) (1)
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error (2018) (0)
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error (2014) (0)
- On Aging: Jean Amery and the Late Films of Jean-Luc Godard (2011) (0)
- THE APPLICATION OF RESTRICTION FRAGMENT LENGTH POLYMORPHISMS TO GENETIC-COUNSELING (1984) (0)
- Mapping of Genetic Variants Underlying High Myopia and High Hypermetropia in the Western Isles of Scotland (2009) (0)
- Haplotype frequencies of three polymorphisms at the TIMP locus. (1994) (0)
- Supplementary Material 11 (2014) (0)
- Effects of Inbreeding on Essential Hypertension (2002) (0)
- Comprar Genes and Common Diseases | Alan Wright | 9780521541008 | Cambridge University Press (2007) (0)
- 10q26 – The enigma in age-related macular degeneration (2022) (0)
- P4-167: Investigation of mitochondrial DNA damage in late-onset Alzheimer's disease (2008) (0)
- Edinburgh Research Explorer Evidence of association of APOE with age-related macular degeneration (2018) (0)
- Explorer Runs of Homozygosity in European Populations (2017) (0)
- Genome-Wide Association Study (GWAS) of plasma Aß levels in the dalmatian islands of Vis and korcula (2009) (0)
- Results ANALYSIS OF PKD 1 RECOMBINANTS One hundred and ninety two informative (0)
- Edinburgh Research Explorer Increased level of linkage disequilibrium in rural compared with urban communities (2018) (0)
- Evidence for an RPGR-interacting Protein That Is Associated With Centrosomes (2002) (0)
- Ameta-analysis of 120 246 individuals identi fi es 18 new loci for fi brinogen concentration (2016) (0)
- Supplementary Material (nature09270-s1) (2012) (0)
- Multiple Kernel Learning for Genomic Predictions of Complex Traits (2013) (0)
- European Mathematical Genetics Meeting, EMGM 2013, Leiden, The Netherlands (2013) (0)
- Effects of a Ser163Arg C1QTNF5 Mutation on Cell Adhesion (2006) (0)
- Molecular Genetics in Diseases of Brain, Nerve, and Muscle . Edited by L. P. Rolland, D. S. Wood, E. A. Schon and S. DiMauro. Oxford University Press. 1989. 481 pages. Price £45.00. ISBN 0 195 051 637. (1991) (0)
- Leveraging Different Sources of Signal in Genomic Predictions of Complex Traits (2013) (0)
- Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals (2018) (0)
- Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models (2017) (0)
- Genome-Wide Association Study of Brain Gene Expression Levels (eGWAS) (2011) (0)
- Replacement Gene Therapy in a Mouse Model of X-Linked Retinitis Pigmentosa Lacking RPGR (2008) (0)
- Linkage toD3S47(C17) inOne large AutosomalDominant Retinitis Pigmentosa FamilyandExclusion inAnother: Confirmation ofGenetic Heterogeneity (1990) (0)
- RECOMBINANT-DNA MARKERS AND GENETIC-MAPPING OF X-LINKED RETINITIS-PIGMENTOSA (1986) (0)
- The Contribution of ARMS 2 to the AMD Association in Chromosomal Region 10 q 26 (2011) (0)
- RECOMBINANT DNA PROBES IN RETINITIS PIGMENTOSA (1984) (0)
- Development and Use of Recombinant Dna Probes for Linkage Analysis to X-Linked Retinitis Pigmentosa (1984) (0)
- Genome-wide association analysis identifies six new loci associated with forced vital capacity | NOVA. The University of Newcastle's Digital Repository (2014) (0)
- Isolation of a retinal-expressed gene and linkage disequilibrium mapping in the RP3 type X-linked retinitis pigmentosa region (1996) (0)
- Genomic prediction of health traits in humans: demonstrating the value of marker selection. (2014) (0)
- Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium (2014) (0)
- RPGR and RPGRIP co–localise to centrosomes in cultured mammalian cells. (2004) (0)
- Genes, environment and cancer (2007) (0)
- Explorer Human population structure , genome autozygosity and human health (0)
- Analysis of Blood Lipid Traits Using Regional Heritability Mapping (2012) (0)
- retardation syndrome mapping to Xp 22 . Fried syndrome is a distinct X linked mental (0)
- Combining different sources of information to optimise genomic prediction of complex traits (2014) (0)
- DiVerence between RP2 and RP3 phenotypes in X linked retinitis pigmentosa (1999) (0)
- LOCI ASSOCIATED WITH N-GLYCOSYLATION OF HUMAN IGG SHOW PLEIOTROPY WITH AUTOIMMUNE DISEASES AND HAEMATOLOGICAL CANCERS (2013) (0)
- Molecular Biology of the Eye: Genes, Vision, and Ocular Disease (1990) (0)
- X-Linked Recessive RPGR Mutation Causes Incomplete Congenital Stationary Night Blindness (2003) (0)
- Systematic Reviews and Meta- and Pooled Analyses Variations in Apolipoprotein E FrequencyWith Age in a Pooled Analysis of a Large Group of Older People (2011) (0)
- Association of vitamin D status with arterial blood pressure and hypertension risk: A mendelian randomisation study (2014) (0)
- Functional Follow-Up Implicates Endothelial Genome-Wide Association Study for Circulating Tissue Plasminogen Activator Levels and (2014) (0)
- Between Circulating Fibrinogen and Cardiovascular Disease Identifies 23 Fibrinogen-Associated Loci but No Strong Evidence of a Causal Association Multiethnic Meta-Analysis of Genome-Wide Association Studies in >100 000 Subjects (2013) (0)
- RPGR Deficiency Results in Retinal Degeneration in Zebrafish (2010) (0)
- Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration (2017) (0)
- Rates of retinal degeneration across species and allometric scaling of metabolic rates suggest a major role for oxidative stress. (2004) (0)
- Explorer Concordant Association of Insulin Degrading Enzyme Gene ( IDE ) Variants with IDE mRNA , A beta , and Alzheimer ' s Disease (2017) (0)
- Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants (2017) (0)
- ANALYSIS OF LINKAGE TO X-LINKED RETINITIS PIGMENTOSA USING RECOMBINANT DNA PROBES (1985) (0)
- What Is The Reduced Risk Of Carrier Status In Females Of X-linked Retinal Dystrophy Families When The Fundus And ERG Are Normal? (2006) (0)
- Erratum: Linkage analysis in X-linked congenital stationary night blindness (Genomics (1992) 14:1 (99-104)) (1994) (0)
- Localization of RPGR to Centrosomes (2003) (0)
- Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
- Interocular Symmetry of Rod and Cone Topography in Human ORF15-RPGR-XLRP Disease Despite Large Intraretinal, Intrafamilial and Interfamilial Variation (2017) (0)
- Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
- Explorer Novel association to the proprotein convertase PCSK 7 gene locus revealed by analysing soluble transferrin receptor ( sTfR ) levels (2018) (0)
- Choosing genes (1996) (0)
- Genome-wide association and functional follow-up reveals new loci for kidney function | NOVA. The University of Newcastle's Digital Repository (2012) (0)
- Mutations in OPA1 cause multiple mtDNA deletions: a novel disorder of mtDNA maintenance (2008) (0)
- A Disease-Causing Mutation in C1QTNF5 Shows Altered Affinity for Complement Factor H and the Y402H Polymorphism, Which Is Associated With Increased Risk of Age-Related Macular Degeneration (2008) (0)
- Genomic Prediction for Complex Traits Following Feature Selection: Results from Bayes C and Genomic Best Linear Unbiased Prediction (G-BLUP) (2013) (0)
- AAV Mediated Gene Replacement Therapy in the RPGR Knockout Mouse– A Model of X–Linked Retinitis Pigmentosa (2005) (0)
- The late–onset retinal degeneration gene product C1QTNF5 (CTRP5) interacts with the membrane–type frizzled–related protein MFRP. (2004) (0)
- Genetic Association of Glucose Transporter Type 1 Variants with Age-Related Macular Degeneration and its Direct Interaction with Complement Factor H at the Protein Level (2012) (0)
- The Genetics of Neurological Disorders . By Michael Baraitser. 2nd Edition. Oxford Medical Publications, Oxford University Press. 1990. 733 pages. Hardback £60.00; ISBN 0 19 261814 8. Paperback £30.00; ISBN 0 19 261813 X. (1990) (0)
- Genetics of autoimmune disease (2007) (0)
- Predicting body mass index and waist-hip ratio from genome-wide single nucleotide polymorphism data. (2014) (0)
- University of Groningen Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations Demirkan, (2012) (0)
- Haplotype analysis in autosomal dominant polycystic kidney disease. (1995) (0)
- X-linked RP Caused by RPGR Mutations: Natural History of the Human Disease and an Rpgr-mutant Rodent Model (2012) (0)
- Localized dysregulation of complement is involved in the pathogenesis of Late-Onset Retinal Macular Degeneration (LORMD) (2012) (0)
- Mapping of an Autosomal Dominant Late-Onset Retinal Degeneration (L-ORD) Gene (2003) (0)
- Edinburgh Research Explorer Runs of Homozygosity in European Populations (0)
- Genome-wide meta-analysis of brachial circumference. (2011) (0)
- Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor (2021) (0)
- THROMBOSIS AND HEMOSTASIS Rare and low-frequency variants and their association with plasma levels of fi brinogen, FVII, FVIII, and vWF (2015) (0)
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What Schools Are Affiliated With Alan Frazer Wright?
Alan Frazer Wright is affiliated with the following schools:
