List of works - Sarah Edkins

A comprehensive catalogue of somatic mutations from a human cancer genome

scientific article

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

scientific article published on 22 May 2005

A small-cell lung cancer genome with complex signatures of tobacco exposure

scientific article

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

A variant in LDLR is associated with abdominal aortic aneurysm

scientific journal article

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

scientific article

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

scientific article

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

scientific article published on 21 May 2007

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

Complex landscapes of somatic rearrangement in human breast cancer genomes

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy

scientific article published on 30 November 2020

Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism

scientific article published in November 2000

GLO1-A novel amplified gene in human cancer

scientific article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison

scientific article

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

scientific article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

scientific article

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

scientific article

Imputation-based meta-analysis of severe malaria in three African populations

scientific article

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Lung cancer: intragenic ERBB2 kinase mutations in tumours

scientific article

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

scientific article

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

scientific article

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

scientific article

Mutations of the BRAF gene in human cancer

scientific article (publication date: 27 June 2002)

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

scientific article

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

scientific article

Recurrent KRAS codon 146 mutations in human colorectal cancer

scientific article published on August 2006

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

scientific article published on 13 March 2008

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

scientific article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

scientific article

Signatures of mutation and selection in the cancer genome

scientific article

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

scientific article

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The gene for cherubism maps to chromosome 4p16.3.

scientific article

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

scientific article

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

List of works by Sarah Edkins

A comprehensive catalogue of somatic mutations from a human cancer genome

A genome wide linkage search for breast cancer susceptibility genes

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

A small-cell lung cancer genome with complex signatures of tobacco exposure

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

A variant in LDLR is associated with abdominal aortic aneurysm

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

Complex landscapes of somatic rearrangement in human breast cancer genomes

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy

Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism

GLO1-A novel amplified gene in human cancer

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

High throughput DNA sequence variant detection by conformation sensitive capillary electrophoresis and automated peak comparison

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Imputation-based meta-analysis of severe malaria in three African populations

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Lung cancer: intragenic ERBB2 kinase mutations in tumours

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Mutations of the BRAF gene in human cancer

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

PICNIC: an algorithm to predict absolute allelic copy number variation with microarray cancer data

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

Recurrent KRAS codon 146 mutations in human colorectal cancer

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

Signatures of mutation and selection in the cancer genome

Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia.

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Somatic mutations of the protein kinase gene family in human lung cancer

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

The gene for cherubism maps to chromosome 4p16.3.

The gene for juvenile hyaline fibromatosis maps to chromosome 4q21

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment