|
| 36692560 | Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. | JAMA | 2023 |
| 37585199 | Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome. | JAMA Dermatol | 2023 |
| 37954898 | Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis. | Crit Care Explor | 2023 |
| 37461723 | Rare GPR37L1 variants reveal potential roles in anxiety and migraine disorders. | bioRxiv | 2023 |
| 36692560 | Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. | JAMA | 2023 |
| 37954898 | Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis. | Crit Care Explor | 2023 |
| 37585199 | Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome. | JAMA Dermatol | 2023 |
| 37461723 | Rare GPR37L1 variants reveal potential roles in anxiety and migraine disorders. | bioRxiv | 2023 |
| 34358671 | Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population. | J Vasc Surg Venous Lymphat Disord | 2022 |
| 35763601 | Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program. | Diabetes Care | 2022 |
| 36090499 | Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification. | Kidney Int Rep | 2022 |
| 35999217 | Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes. | Nat Commun | 2022 |
| 35939579 | Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease. | N Engl J Med | 2022 |
| 35805029 | A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes. | Cancers (Basel) | 2022 |
| 36257325 | Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. | Am J Hum Genet | 2022 |
| 35853973 | Predicting mortality among ischemic stroke patients using pathways-derived polygenic risk scores. | Sci Rep | 2022 |
| 36573973 | Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease. | JAMA | 2022 |
| 34358671 | Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population. | J Vasc Surg Venous Lymphat Disord | 2022 |
| 35805029 | A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes. | Cancers (Basel) | 2022 |
| 35763601 | Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program. | Diabetes Care | 2022 |
| 35853973 | Predicting mortality among ischemic stroke patients using pathways-derived polygenic risk scores. | Sci Rep | 2022 |
| 36573973 | Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease. | JAMA | 2022 |
| 35939579 | Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease. | N Engl J Med | 2022 |
| 35999217 | Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes. | Nat Commun | 2022 |
| 36090499 | Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification. | Kidney Int Rep | 2022 |
| 36257325 | Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. | Am J Hum Genet | 2022 |
| 32952152 | Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. | Int J Obes (Lond) | 2021 |
| 34244158 | Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank. | Cancer Epidemiol Biomarkers Prev | 2021 |
| 34115965 | Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals. | Am J Hum Genet | 2021 |
| 33630087 | A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype. | JAMA Netw Open | 2021 |
| 33788842 | Artificial intelligence and leukocyte epigenomics: Evaluation and prediction of late-onset Alzheimer's disease. | PLoS One | 2021 |
| 33619501 | Genome-wide analysis in 756,646 individuals provides first genetic evidence that <i>ACE2</i> expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease. | medRxiv | 2021 |
| 34210852 | Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity. | Science | 2021 |
| 33716104 | Role of A-kinase anchoring proteins in cyclic-AMP-mediated Schwann cell proliferation. | Cell Signal | 2021 |
| 33711455 | Placental DNA methylation profiles in opioid-exposed pregnancies and associations with the neonatal opioid withdrawal syndrome. | Genomics | 2021 |
| 33709033 | Polygenic Risk Scores Augment Stroke Subtyping. | Neurol Genet | 2021 |
| 32952152 | Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. | Int J Obes (Lond) | 2021 |
| 34646007 | Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. | Genet Med | 2021 |
| 34480422 | The genomics of heart failure: design and rationale of the HERMES consortium. | ESC Heart Fail | 2021 |
| 33630087 | A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype. | JAMA Netw Open | 2021 |
| 33716104 | Role of A-kinase anchoring proteins in cyclic-AMP-mediated Schwann cell proliferation. | Cell Signal | 2021 |
| 33711455 | Placental DNA methylation profiles in opioid-exposed pregnancies and associations with the neonatal opioid withdrawal syndrome. | Genomics | 2021 |
| 33788842 | Artificial intelligence and leukocyte epigenomics: Evaluation and prediction of late-onset Alzheimer's disease. | PLoS One | 2021 |
| 33709033 | Polygenic Risk Scores Augment Stroke Subtyping. | Neurol Genet | 2021 |
| 33619501 | Genome-wide analysis in 756,646 individuals provides first genetic evidence that <i>ACE2</i> expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease. | medRxiv | 2021 |
| 34646007 | Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. | Genet Med | 2021 |
| 34480422 | The genomics of heart failure: design and rationale of the HERMES consortium. | ESC Heart Fail | 2021 |
| 34244158 | Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank. | Cancer Epidemiol Biomarkers Prev | 2021 |
| 34210852 | Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity. | Science | 2021 |
| 34115965 | Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals. | Am J Hum Genet | 2021 |