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| 37090539 | Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival. | medRxiv | 2024 |
| 36018819 | Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men. | Hum Mol Genet | 2023 |
| 37733366 | Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer. | JAMA Oncol | 2023 |
| 36782065 | Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. | Nat Genet | 2023 |
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| 35170833 | The impact of GeneMatcher on international data sharing and collaboration. | Hum Mutat | 2022 |
| 35653140 | Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer. | Clin Cancer Res | 2022 |
| 35346344 | Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. | Genome Med | 2022 |
| 35668106 | Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures. | Nat Commun | 2022 |
| 36008758 | Results and lessons from dual extraction of DNA and RNA from formalin-fixed paraffin-embedded breast tumor tissues for a large Cancer epidemiologic study. | BMC Genomics | 2022 |
| 35191117 | Variant-level matching for diagnosis and discovery: Challenges and opportunities. | Hum Mutat | 2022 |
| 32853339 | Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer. | J Natl Cancer Inst | 2021 |
| 34819528 | Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. | NPJ Genom Med | 2021 |
| 34407837 | PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. | Orphanet J Rare Dis | 2021 |
| 34750377 | Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. | NPJ Genom Med | 2021 |
| 30510241 | Discovery of common and rare genetic risk variants for colorectal cancer. | Nat Genet | 2019 |
| 31217584 | Genetic analyses of diverse populations improves discovery for complex traits. | Nature | 2019 |
| 29859855 | Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma. | EBioMedicine | 2018 |
| 29915430 | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. | Nat Genet | 2018 |
| 28075488 | Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing. | Curr Protoc Hum Genet | 2017 |
| 28346442 | Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. | Nat Genet | 2017 |
| 28502727 | Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. | J Mol Diagn | 2017 |
| 29059683 | Association analysis identifies 65 new breast cancer risk loci. | Nature | 2017 |
| 29058716 | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. | Nat Genet | 2017 |
| 29255178 | Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. | Eur J Hum Genet | 2017 |
| 27697780 | The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers. | Cancer Epidemiol Biomarkers Prev | 2017 |
| 28076899 | Genome-Wide Association Analysis Reveals Genetic Heterogeneity of Sjögren's Syndrome According to Ancestry. | Arthritis Rheumatol | 2017 |
| 26239294 | Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. | Mol Psychiatry | 2016 |
| 26595808 | Whole-Exome Sequencing in Familial Parkinson Disease. | JAMA Neurol | 2016 |
| 27416908 | A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia. | Leukemia | 2016 |
| 27018472 | A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. | Am J Hum Genet | 2016 |
| 26746457 | Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. | JAMA | 2016 |
| 26857349 | Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. | Clin Pharmacol Ther | 2016 |
| 27033726 | A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. | Hum Mol Genet | 2016 |
| 26732560 | Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2. | Stroke | 2016 |
| 26691988 | A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. | Nat Genet | 2016 |
| 25394726 | Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. | Am J Med Genet A | 2015 |
| 26221186 | Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network. | Genome Med | 2015 |
| 26166479 | The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. | Am J Hum Genet | 2015 |
| 26023777 | Correction: Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study. | PLoS One | 2015 |
| 25982363 | Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network. | Genet Epidemiol | 2015 |
| 25786224 | Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study. | PLoS One | 2015 |
| 25803036 | Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. | PLoS One | 2015 |
| 25748358 | Characterization of large structural genetic mosaicism in human autosomes. | Am J Hum Genet | 2015 |
| 25569433 | Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. | Genet Med | 2015 |
| 25297839 | Genetic variation in the HLA region is associated with susceptibility to herpes zoster. | Genes Immun | 2015 |
| 24014426 | Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21. | Hum Mol Genet | 2014 |
| 25565926 | Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. | Mol Syndromol | 2014 |
| 24993872 | Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. | JAMA Ophthalmol | 2014 |
| 25147783 | Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial. | Front Public Health | 2014 |