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| 36747613 | A harmonized public resource of deeply sequenced diverse human genomes. | bioRxiv | 2024 |
| 37982373 | Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. | Genet Med | 2024 |
| 38054408 | Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. | Genet Med | 2024 |
| 36747613 | A harmonized public resource of deeply sequenced diverse human genomes. | bioRxiv | 2024 |
| 38054408 | Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. | Genet Med | 2024 |
| 37982373 | Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms. | Genet Med | 2024 |
| 36350676 | FAVOR: functional annotation of variants online resource and annotator for variation across the human genome. | Nucleic Acids Res | 2023 |
| 36350676 | FAVOR: functional annotation of variants online resource and annotator for variation across the human genome. | Nucleic Acids Res | 2023 |
| 36441169 | Importance of adopting standardized MANE transcripts in clinical reporting. | Genet Med | 2023 |
| 37595579 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Am J Hum Genet | 2023 |
| 37719151 | Aligning NIH's existing data use restrictions to the GA4GH DUO standard. | Cell Genom | 2023 |
| 37790445 | Genetic Sex Validation for Sample Tracking in Clinical Testing. | Res Sq | 2023 |
| 37633279 | Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. | Am J Hum Genet | 2023 |
| 37632486 | An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks. | Mayo Clin Proc | 2023 |
| 36778464 | A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service. | medRxiv | 2023 |
| 37214979 | Insights from a genome-wide truth set of tandem repeat variation. | bioRxiv | 2023 |
| 37090938 | Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report. | Neurol Genet | 2023 |
| 37034593 | Advancing Understanding of Inequities in Rare Disease Genomics. | medRxiv | 2023 |
| 36653560 | Mono- and biallelic variant effects on disease at biobank scale. | Nature | 2023 |
| 37279760 | Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. | Am J Hum Genet | 2023 |
| 37205491 | The landscape of tolerated genetic variation in humans and primates. | bioRxiv | 2023 |
| 37268776 | Tracking genetic variants in the biomedical literature using LitVar 2.0. | Nat Genet | 2023 |
| 37205493 | Rare penetrant mutations confer severe risk of common diseases. | medRxiv | 2023 |
| 37262156 | The landscape of tolerated genetic variation in humans and primates. | Science | 2023 |
| 37262146 | Rare penetrant mutations confer severe risk of common diseases. | Science | 2023 |
| 37071725 | Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. | Circ Genom Precis Med | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37066232 | Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. | medRxiv | 2023 |
| 36868203 | 2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing. | Am J Hum Genet | 2023 |
| 36993580 | Inferring compound heterozygosity from large-scale exome sequencing data. | bioRxiv | 2023 |
| 36541006 | Accessing clinical-grade genomic classification data through the ClinGen Data Platform. | Pac Symp Biocomput | 2023 |
| 36540993 | Development and application of a computable genotype model in the GA4GH Variation Representation Specification. | Pac Symp Biocomput | 2023 |
| 37534744 | The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. | Genet Med | 2023 |
| 37534745 | Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States. | Genet Med | 2023 |
| 37526719 | Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry. | JAMA | 2023 |
| 37719151 | Aligning NIH's existing data use restrictions to the GA4GH DUO standard. | Cell Genom | 2023 |
| 37633279 | Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. | Am J Hum Genet | 2023 |
| 37632486 | An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks. | Mayo Clin Proc | 2023 |
| 37595579 | Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. | Am J Hum Genet | 2023 |
| 37526719 | Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry. | JAMA | 2023 |
| 37790445 | Genetic Sex Validation for Sample Tracking in Clinical Testing. | Res Sq | 2023 |
| 37534744 | The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. | Genet Med | 2023 |
| 37534745 | Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States. | Genet Med | 2023 |
| 36993580 | Inferring compound heterozygosity from large-scale exome sequencing data. | bioRxiv | 2023 |
| 37214979 | Insights from a genome-wide truth set of tandem repeat variation. | bioRxiv | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37279760 | Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. | Am J Hum Genet | 2023 |
| 37205491 | The landscape of tolerated genetic variation in humans and primates. | bioRxiv | 2023 |
| 37205493 | Rare penetrant mutations confer severe risk of common diseases. | medRxiv | 2023 |
| 37071725 | Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. | Circ Genom Precis Med | 2023 |