| human | Q5 |
| P6178 | Dimensions author ID | 01145376354.45 |
| P856 | official website | https://synapse.mskcc.org/synapse/people/6858 |
| P496 | ORCID iD | 0000-0002-7933-151X |
| P1053 | ResearcherID | C-9792-2010 |
| P1153 | Scopus author ID | 54418770000 |
| P108 | employer | Memorial Sloan Kettering Cancer Center | Q1808012 |
| P735 | given name | Joseph | Q471788 |
| Joseph | Q471788 | ||
| P106 | occupation | researcher | Q1650915 |
| P21 | sex or gender | male | Q6581097 |
| Q35890189 | A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis |
| Q40495288 | A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer |
| Q34881099 | A genome-wide association study of marginal zone lymphoma shows association to the HLA region |
| Q48199147 | A locus for juvenile myoclonic epilepsy maps to 2q33-q36. |
| Q35089479 | A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population |
| Q36152991 | A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers |
| Q97519331 | A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers |
| Q34979383 | A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome |
| Q34369388 | A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia |
| Q57907601 | Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer |
| Q57907603 | Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer |
| Q59059958 | Abstract 5071: A genome-wide association study suggests evidence of variants at 6p21.32 associated with marginal zone lymphoma |
| Q59060123 | Abstract 5072: Meta-analysis of genome-wide association studies identifies novel susceptibility loci for follicular lymphoma |
| Q57610256 | Abstract LB-272: Genome-wide association study identifies multiple susceptibility loci for diffuse large B-cell lymphoma |
| Q36286694 | An analysis of the association between prostate cancer risk loci, PSA levels, disease aggressiveness and disease-specific mortality |
| Q35618307 | An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers |
| Q24170413 | Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types |
| Q35242849 | Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers |
| Q34806183 | Assessment of SLX4 Mutations in Hereditary Breast Cancers |
| Q91271723 | Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness |
| Q36178189 | Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. |
| Q35957703 | Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer |
| Q35523236 | Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers |
| 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 |
| Q35940158 | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. |
| Q36998293 | COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration |
| Q38180646 | Cancer genomics and inherited risk |
| Q57907575 | Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing |
| Q34963894 | Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q91341465 | Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes |
| Q96962174 | Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) |
| Q39790653 | Clinical Evaluation of Cisplatin Sensitivity of Germline Polymorphisms in Neoadjuvant Chemotherapy for Urothelial Cancer |
| Q47633592 | Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands |
| Q30992909 | Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes |
| Q33742096 | Common genetic variants and modification of penetrance of BRCA2-associated breast cancer |
| Q36393232 | Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers |
| Q35870067 | Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q31082788 | Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC) |
| Q57266620 | Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated 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) |
| Q21144874 | DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers |
| Q60472142 | Discovery of common and rare genetic risk variants for colorectal cancer |
| Q35846927 | Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women |
| Q47157633 | Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk |
| Q36890898 | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer |
| Q33614244 | Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers |
| Q35999309 | FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor |
| Q36087170 | Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers |
| Q61230414 | Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes |
| Q92480972 | Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes |
| Q36124728 | Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus |
| Q44233423 | GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. |
| Q35208177 | Genetic architecture of prostate cancer in the Ashkenazi Jewish population |
| Q28540047 | Genetic association analysis of ATP binding cassette protein family reveals a novel association of ABCB1 genetic variants with epilepsy risk, but not with drug-resistance |
| Q48221871 | Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population |
| Q92588645 | Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes |
| Q41544357 | Genetic susceptibility to diffuse large B-cell lymphoma in a pooled study of three Eastern Asian populations |
| Q35022825 | Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers |
| Q33882519 | Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma |
| Q89737463 | Genetically Determined Height and Risk of Non-hodgkin Lymphoma |
| Q28393571 | Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes |
| Q57907606 | Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant |
| Q37637724 | Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia |
| Q63681757 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer |
| Q37785242 | Genome-wide association studies of cancer predisposition |
| Q34288685 | Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region |
| Q28943339 | Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia |
| Q28248768 | Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma |
| Q27008356 | Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk |
| Q33423823 | Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia |
| Q54465029 | HLA class I and II diversity contributes to the etiologic heterogeneity of non-Hodgkin lymphoma subtypes. |
| Q35382206 | Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers |
| Q58865352 | High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation |
| Q52715920 | High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation. |
| Q30252854 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer |
| Q36720814 | Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk |
| Q36754771 | Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry |
| Q36086247 | Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus |
| Q35541663 | Identification of six new susceptibility loci for invasive epithelial ovarian cancer |
| Q46103372 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer |
| Q37179254 | Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer |
| Q113757773 | Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non–Muscle-Invasive Bladder Cancer |
| Q57907552 | Inherited mutations in breast cancer patients with and without multiple primary cancers |
| Q48267403 | Integrative clinical genomics of metastatic cancer |
| Q89929962 | Lipid Trait Variants and the Risk of Non-Hodgkin Lymphoma Subtypes: A Mendelian Randomization Study |
| Q46737936 | Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma |
| Q44292225 | Major vault protein (MVP) gene polymorphisms and drug resistance in mesial temporal lobe epilepsy with hippocampal sclerosis |
| Q31043651 | Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. |
| Q114182490 | Mendelian randomisation study of smoking exposure in relation to breast cancer risk |
| Q36675182 | Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia |
| Q49024646 | Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations. |
| Q30374367 | No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. |
| Q56359054 | Novel Common Genetic Susceptibility Loci for Colorectal Cancer |
| Q36280191 | Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers |
| Q62583133 | Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes |
| Q97524107 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants |
| Q36356727 | Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores |
| Q36583004 | Prediction of breast cancer risk based on profiling with common genetic variants |
| Q37877648 | Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer |
| Q37356530 | Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer |
| Q41768169 | Rare de novo germline copy-number variation in testicular cancer |
| Q35155449 | Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia |
| Q34184913 | Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins |
| Q41785590 | Susceptibility loci associated with prostate cancer progression and mortality |
| Q28943260 | Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies |
| Q33784408 | The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk |
| Q35793648 | Tissue-Specific Enrichment of Lymphoma Risk Loci in Regulatory Elements |
| Q91763327 | Toward automation of germline variant curation in clinical cancer genetics |
| Q89961489 | Transcriptome-wide association study of breast cancer risk by estrogen-receptor status |
| Q57285472 | Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia |
| Q92994868 | Two truncating variants in FANCC and breast cancer risk |
| Q37636770 | Variants at IRX4 as prostate cancer expression quantitative trait loci |
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