Lista de obras -

A common coding variant in CASP8 is associated with breast cancer risk

article

A genome-wide association study identifies susceptibility loci for Wilms tumor

scientific journal article

A genome-wide association study of testicular germ cell tumor

artículo científico publicado en 2009

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

artículo científico publicado en 2006

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

artículo científico publicado en 2006

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

artículo científico publicado en 2011

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

artículo científico publicado en 2012

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

artículo científico publicado en 2015

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

artículo científico publicado en 2011

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

artículo científico publicado en 2012

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

article

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

artículo científico publicado en 2016

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

article

Evaluation ofRAD50 in familial breast cancer predisposition

Exploring the link between MORF4L1 and risk of breast cancer

artículo científico publicado en 2011

Gene-gene interactions in breast cancer susceptibility

artículo científico publicado en 2011

Genome-wide association study identifies five new breast cancer susceptibility loci

artículo científico publicado en 2010

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

artículo científico publicado en 2011

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

article by Elise Ruark et al published 31 August 2018 in Wellcome Open Research

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

artículo científico publicado en 2013

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25 ⬇️

artículo científico publicado en 2014

Mutation and association analysis of GEN1 in breast cancer susceptibility

artículo científico publicado en 2010

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

artículo científico publicado en 2015

Mutations in the transcriptional repressor REST predispose to Wilms tumor

artículo científico publicado en 2015

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

artículo científico publicado en 2016

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

artículo científico publicado en 2007

Prediction of breast cancer risk based on profiling with common genetic variants

artículo científico publicado en 2015

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

artículo científico publicado en 2012

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

artículo científico publicado en 2009

The ICR1000 UK exome series: a resource of gene variation in an outbred population

artículo científico publicado en 2015

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

artículo científico publicado en 2016

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

article

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

artículo científico publicado en 2017

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance

artículo científico publicado en 2018

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

artículo científico publicado en 2018

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

article

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

artículo científico publicado en 2010

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

artículo científico publicado en 2015

Lista de obras de

A common coding variant in CASP8 is associated with breast cancer risk

A genome-wide association study identifies susceptibility loci for Wilms tumor

A genome-wide association study of testicular germ cell tumor

A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

Clinical Annotation Reference Templates: a resource for consistent variant annotation

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor.

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

Evaluation ofRAD50 in familial breast cancer predisposition

Exploring the link between MORF4L1 and risk of breast cancer

Gene-gene interactions in breast cancer susceptibility

Genome-wide association study identifies five new breast cancer susceptibility loci

Germline RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25 ⬇️

Mutation and association analysis of GEN1 in breast cancer susceptibility

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Mutations in the transcriptional repressor REST predispose to Wilms tumor

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

Prediction of breast cancer risk based on profiling with common genetic variants

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

The ICR1000 UK exome series: a resource of gene variation in an outbred population

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours