Lista de obras -

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 27 September 2013

A map of the human genome in linkage disequilibrium units.

artículo científico publicado en 2005

A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration

artículo científico publicado en 2015

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

artículo científico publicado en 2019

CBL-MZ is not a single biological entity: evidence from genomic analysis and prolonged clinical follow-up

artículo científico publicado en 2018

Clinical Implications of Old and New Genes for Open-Angle Glaucoma

article

Composite likelihood-based meta-analysis of breast cancer association studies.

artículo científico publicado en 2011

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

article

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

artículo científico publicado en 2016

Determination of a gene and environment risk model for age-related macular degeneration.

artículo científico publicado en 2010

Distinctive genotypes in infants with T-cell acute lymphoblastic leukaemia.

artículo científico publicado en 2015

Eggplant Domestication: Pervasive Gene Flow, Feralization, and Transcriptomic Divergence

scientific article published on 01 July 2019

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

artículo científico publicado en 2015

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

artículo científico publicado en 2016

Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease.

artículo científico publicado en 2015

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

artículo científico publicado en 2013

Exome sequence read depth methods for identifying copy number changes

artículo científico publicado en 2014

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

artículo científico publicado en 2012

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

artículo científico publicado en 2010

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.

artículo científico publicado en 2016

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

artículo científico publicado en 2017

Individual disease risk and multimetric analysis of Crohn disease.

artículo científico publicado en 2008

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease

artículo científico publicado en 2016

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

artículo científico publicado en 2014

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

scientific article published on 26 November 2008

Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.

artículo científico publicado en 2013

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.

artículo científico publicado en 2009

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

artículo científico publicado en 2015

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma

scientific article published on 18 July 2019

The optimal measure of linkage disequilibrium reduces error in association mapping of affection status

artículo científico publicado en 2004

VEGFR2 Gene Polymorphisms and Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

artículo científico publicado en 2015

Variation in complement component C1 inhibitor in age-related macular degeneration

artículo científico publicado en 2011

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma

artículo científico publicado en 2013

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

artículo científico publicado en 2015

Lista de obras de

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

A map of the human genome in linkage disequilibrium units.

A rare penetrant TIMP3 mutation confers relatively late onset choroidal neovascularisation which can mimic age-related macular degeneration

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

CBL-MZ is not a single biological entity: evidence from genomic analysis and prolonged clinical follow-up

Clinical Implications of Old and New Genes for Open-Angle Glaucoma

Composite likelihood-based meta-analysis of breast cancer association studies.

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Determination of a gene and environment risk model for age-related macular degeneration.

Distinctive genotypes in infants with T-cell acute lymphoblastic leukaemia.

Eggplant Domestication: Pervasive Gene Flow, Feralization, and Transcriptomic Divergence

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease.

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

Exome sequence read depth methods for identifying copy number changes

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Individual disease risk and multimetric analysis of Crohn disease.

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.

Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma

The optimal measure of linkage disequilibrium reduces error in association mapping of affection status

VEGFR2 Gene Polymorphisms and Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

Variation in complement component C1 inhibitor in age-related macular degeneration

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations