|
| 36798371 | Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. | bioRxiv | 2023 |
| 37662324 | Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics. | medRxiv | 2023 |
| 37808736 | Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. | bioRxiv | 2023 |
| 37560121 | Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. | Neurol Genet | 2023 |
| 37783704 | Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations. | Nat Commun | 2023 |
| 37194416 | Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Ann Clin Transl Neurol | 2023 |
| 36798371 | Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. | bioRxiv | 2023 |
| 36621880 | Returning integrated genomic risk and clinical recommendations: The eMERGE study. | Genet Med | 2023 |
| 37181728 | A metadata framework for computational phenotypes. | JAMIA Open | 2023 |
| 36737471 | Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network. | Sci Rep | 2023 |
| 36789420 | Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity. | medRxiv | 2023 |
| 37808736 | Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. | bioRxiv | 2023 |
| 37560121 | Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. | Neurol Genet | 2023 |
| 37662324 | Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics. | medRxiv | 2023 |
| 37783704 | Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations. | Nat Commun | 2023 |
| 37181728 | A metadata framework for computational phenotypes. | JAMIA Open | 2023 |
| 37194416 | Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Ann Clin Transl Neurol | 2023 |
| 36789420 | Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity. | medRxiv | 2023 |
| 36621880 | Returning integrated genomic risk and clinical recommendations: The eMERGE study. | Genet Med | 2023 |
| 36737471 | Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network. | Sci Rep | 2023 |
| 36372681 | Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. | Obesity (Silver Spring) | 2022 |
| 36372681 | Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. | Obesity (Silver Spring) | 2022 |
| 35765100 | Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. | Genome Med | 2022 |
| 35765100 | Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. | Genome Med | 2022 |
| 32964493 | Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. | Genet Epidemiol | 2021 |
| 34282949 | Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry. | Circ Genom Precis Med | 2021 |
| 33667396 | Response to Li and Hopper. | Am J Hum Genet | 2021 |
| 32964493 | Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. | Genet Epidemiol | 2021 |
| 33407432 | Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort. | BMC Med Genomics | 2021 |
| 34377931 | Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. | JNCI Cancer Spectr | 2021 |
| 33667396 | Response to Li and Hopper. | Am J Hum Genet | 2021 |
| 34377931 | Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. | JNCI Cancer Spectr | 2021 |
| 34282949 | Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry. | Circ Genom Precis Med | 2021 |
| 33407432 | Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort. | BMC Med Genomics | 2021 |
| 32758450 | Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. | Am J Hum Genet | 2020 |
| 32758450 | Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. | Am J Hum Genet | 2020 |
| 35047832 | Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis. | HGG Adv | 2020 |
| 35047832 | Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis. | HGG Adv | 2020 |
| 30298529 | The eMERGE genotype set of 83,717 subjects imputed to ~40â¿¿million variants genome wide and association with the herpes zoster medical record phenotype. | Genet Epidemiol | 2019 |
| 30459343 | Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling. | Genes Immun | 2019 |
| 30298529 | The eMERGE genotype set of 83,717 subjects imputed to ~40â¿¿million variants genome wide and association with the herpes zoster medical record phenotype. | Genet Epidemiol | 2019 |
| 31400517 | Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. | Contemp Clin Trials | 2019 |
| 31422818 | Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. | Am J Hum Genet | 2019 |
| 31400517 | Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. | Contemp Clin Trials | 2019 |
| 31422818 | Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. | Am J Hum Genet | 2019 |
| 30459343 | Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling. | Genes Immun | 2019 |
| 28695303 | A comparison of cosegregation analysis methods for the clinical setting. | Fam Cancer | 2018 |
| 28695303 | A comparison of cosegregation analysis methods for the clinical setting. | Fam Cancer | 2018 |
| 30267214 | Rare loss of function variants in candidate genes and risk of colorectal cancer. | Hum Genet | 2018 |
| 30267214 | Rare loss of function variants in candidate genes and risk of colorectal cancer. | Hum Genet | 2018 |