human | Q5 |
P735 | given name | Anthony | Q12241622 |
Anthony | Q12241622 | ||
P106 | occupation | researcher | Q1650915 |
Q57250674 | A common coding variant in CASP8 is associated with breast cancer risk |
Q28943448 | A genome-wide association study identifies susceptibility loci for Wilms tumor |
Q33855633 | A genome-wide association study of testicular germ cell tumor |
Q37272989 | A multicenter study of cancer incidence in CHEK2 1100delC mutation carriers |
Q34546389 | ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles |
Q35532898 | 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 |
Q34327945 | Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 |
Q40599031 | CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting |
Q59542947 | Clinical Annotation Reference Templates: a resource for consistent variant annotation |
Q31082788 | Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
Q34181322 | Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer |
Q57278898 | Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
Q64229627 | Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth |
Q54346685 | Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor. |
Q57250672 | Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk |
Q57266770 | Evaluation of Fanconi Anemia genes in familial breast cancer predisposition |
Q57266727 | Evaluation ofRAD50 in familial breast cancer predisposition |
Q33863235 | Exploring the link between MORF4L1 and risk of breast cancer |
Q34017597 | Gene-gene interactions in breast cancer susceptibility |
Q34114293 | Genome-wide association study identifies five new breast cancer susceptibility loci |
Q57266552 | Germline RAD51C mutations confer susceptibility to ovarian cancer |
Q28245028 | Germline mutations in RAD51D confer susceptibility to ovarian cancer |
Q57272175 | ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series |
Q28388006 | Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer |
Q35221378 | Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25 |
Q36785681 | Mutation and association analysis of GEN1 in breast cancer susceptibility |
Q35924047 | Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. |
Q40341032 | Mutations in the transcriptional repressor REST predispose to Wilms tumor |
Q40638979 | OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis. |
Q24615080 | PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene |
Q36583004 | Prediction of breast cancer risk based on profiling with common genetic variants |
Q37194147 | Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer |
Q37300024 | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. |
Q35911639 | The ICR1000 UK exome series: a resource of gene variation in an outbred population |
Q36011878 | The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis |
Q57272178 | The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing |
Q36409934 | The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data |
Q53160175 | The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance |
Q53160146 | The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. |
Q56625730 | Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles |
Q29417028 | Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer |
Q35114280 | Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours |
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