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A general approach for haplotype phasing across the full spectrum of relatedness

PLoS genetics, 2014-04, Vol.10 (4), p.e1004234-e1004234

2014

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Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

American journal of human genetics, 2012-05, Vol.90 (5), p.809-820

2012

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Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Nature communications, 2017-08, Vol.8 (1), p.271-10, Article 271

2017

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Comparative Performance of Four Methods for High-throughput Glycosylation Analysis of Immunoglobulin G in Genetic and Epidemiological Research

Molecular & cellular proteomics, 2014-06, Vol.13 (6), p.1598-1610

2014

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Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans

Glycobiology (Oxford), 2010-08, Vol.20 (8), p.959-969

2010

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The association of dietary intake of purine-rich vegetables, sugar-sweetened beverages and dairy with plasma urate, in a cross-sectional study

PloS one, 2012-06, Vol.7 (6), p.e38123

2012

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Complement C3 Variant and the Risk of Age-Related Macular Degeneration

The New England journal of medicine, 2007-08, Vol.357 (6), p.553-561

2007

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Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits

PLoS genetics, 2020-07, Vol.16 (7), p.e1008785-e1008785

2020

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Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

Journal of the American Society of Nephrology, 2010, Vol.21 (1), p.64-72

2010

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Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation

PLoS genetics, 2010-12, Vol.6 (12), p.e1001256-e1001256

2010

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Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants

Genome medicine, 2017-03, Vol.9 (1), p.23-23, Article 23

2017

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Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping

PloS one, 2012-10, Vol.7 (10), p.e46501-e46501

2012

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Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study

The lancet oncology, 2008-03, Vol.9 (3), p.239-246

2008

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Complement factor D in age-related macular degeneration

Investigative ophthalmology & visual science, 2011-11, Vol.52 (12), p.8828-8834

2011

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Long-Term Effects of Retinal Gene Therapy in Childhood Blindness

The New England journal of medicine, 2015-05, Vol.372 (20), p.1954-1955

Wright, Alan F

2015

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Long-term visual acuity and the duration of macular detachment: findings from a prospective population-based study

British journal of ophthalmology, 2013-02, Vol.97 (2), p.149-152

2013

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RPGR: Its role in photoreceptor physiology, human disease, and future therapies

Experimental eye research, 2015-09, Vol.138, p.32-41

2015

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ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice

Human molecular genetics, 2013-04, Vol.22 (8), p.1507-1515

2013

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Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

Nature reviews. Genetics, 2010-04, Vol.11 (4), p.273-284

2010

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RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins

The Journal of biological chemistry, 2005-09, Vol.280 (39), p.33580-33587

2005

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Population-based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachment

Investigative ophthalmology & visual science, 2011-04, Vol.52 (5), p.2551-2555

2011

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A ‘complexity’ of urate transporters

Kidney international, 2010-09, Vol.78 (5), p.446-452

2010

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

Nature genetics, 2000-08, Vol.25 (4), p.462-466

2000

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Population choice in mapping genes for complex diseases

Nature genetics, 1999-12, Vol.23 (4), p.397-404

1999

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A general approach for haplotype phasing across the full spectrum of relatedness

Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Comparative Performance of Four Methods for High-throughput Glycosylation Analysis of Immunoglobulin G in Genetic and Epidemiological Research

Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans

The association of dietary intake of purine-rich vegetables, sugar-sweetened beverages and dairy with plasma urate, in a cross-sectional study

Complement C3 Variant and the Risk of Age-Related Macular Degeneration

Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation

Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants

Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile

Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping

Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study

Complement factor D in age-related macular degeneration

Long-Term Effects of Retinal Gene Therapy in Childhood Blindness

Long-term visual acuity and the duration of macular detachment: findings from a prospective population-based study

RPGR: Its role in photoreceptor physiology, human disease, and future therapies

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins

Population-based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachment

A ‘complexity’ of urate transporters

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

Population choice in mapping genes for complex diseases

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