|
| 37541188 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. | Am J Hum Genet | 2023 |
| 37541188 | Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. | Am J Hum Genet | 2023 |
| 35507016 | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | Genet Med | 2022 |
| 35507016 | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | Genet Med | 2022 |
| 34329581 | Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution. | Am J Hum Genet | 2021 |
| 34329581 | Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution. | Am J Hum Genet | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 31661308 | Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. | Am J Respir Crit Care Med | 2020 |
| 31661308 | Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. | Am J Respir Crit Care Med | 2020 |
| 31064749 | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Blood | 2019 |
| 31676867 | PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. | Nat Genet | 2019 |
| 31064749 | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | Blood | 2019 |
| 31676867 | PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. | Nat Genet | 2019 |
| 29650961 | Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. | Nat Commun | 2018 |
| 29650961 | Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. | Nat Commun | 2018 |
| 27084890 | A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. | Blood | 2016 |
| 27084890 | A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. | Blood | 2016 |
| 27863252 | The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. | Cell | 2016 |
| 27863252 | The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. | Cell | 2016 |
| 25428371 | The InterPro protein families database: the classification resource after 15 years. | Nucleic Acids Res | 2015 |
| 25428371 | The InterPro protein families database: the classification resource after 15 years. | Nucleic Acids Res | 2015 |
| 23161694 | Genenames.org: the HGNC resources in 2013. | Nucleic Acids Res | 2013 |
| 23161694 | Genenames.org: the HGNC resources in 2013. | Nucleic Acids Res | 2013 |
| 22096229 | InterPro in 2011: new developments in the family and domain prediction database. | Nucleic Acids Res | 2012 |
| 23245209 | Gene family matters: expanding the HGNC resource. | Hum Genomics | 2012 |
| 22096229 | InterPro in 2011: new developments in the family and domain prediction database. | Nucleic Acids Res | 2012 |
| 23245209 | Gene family matters: expanding the HGNC resource. | Hum Genomics | 2012 |
| 18940856 | InterPro: the integrative protein signature database. | Nucleic Acids Res | 2009 |
| 18940856 | InterPro: the integrative protein signature database. | Nucleic Acids Res | 2009 |
| 17202162 | New developments in the InterPro database. | Nucleic Acids Res | 2007 |
| 17202162 | New developments in the InterPro database. | Nucleic Acids Res | 2007 |