|
| 35816432 | Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of <i>MUC5B</i> and <i>DSP</i> in Idiopathic Pulmonary Fibrosis. | Am J Respir Crit Care Med | 2022 |
| 35816432 | Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of <i>MUC5B</i> and <i>DSP</i> in Idiopathic Pulmonary Fibrosis. | Am J Respir Crit Care Med | 2022 |
| 34108472 | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Nat Commun | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 34108472 | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Nat Commun | 2021 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 32461654 | The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2020 |
| 32461654 | The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2020 |
| 30609406 | Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. | Am J Hum Genet | 2019 |
| 30609406 | Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture. | Am J Hum Genet | 2019 |
| 28640241 | Long-read genome sequencing identifies causal structural variation in a Mendelian disease. | Genet Med | 2018 |
| 28640241 | Long-read genome sequencing identifies causal structural variation in a Mendelian disease. | Genet Med | 2018 |
| 29478781 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Am J Hum Genet | 2018 |
| 29478781 | Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Am J Hum Genet | 2018 |
| 29022581 | The impact of rare variation on gene expression across tissues. | Nature | 2017 |
| 29022581 | The impact of rare variation on gene expression across tissues. | Nature | 2017 |
| 28394350 | Population- and individual-specific regulatory variation in Sardinia. | Nat Genet | 2017 |
| 28251733 | Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. | Hum Mutat | 2017 |
| 28251733 | Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. | Hum Mutat | 2017 |
| 28394350 | Population- and individual-specific regulatory variation in Sardinia. | Nat Genet | 2017 |
| 27197214 | Impact of the X Chromosome and sex on regulatory variation. | Genome Res | 2016 |
| 27197214 | Impact of the X Chromosome and sex on regulatory variation. | Genome Res | 2016 |
| 28076858 | Non-Coding Loss-of-Function Variation in Human Genomes. | Hum Hered | 2016 |
| 28076858 | Non-Coding Loss-of-Function Variation in Human Genomes. | Hum Hered | 2016 |
| 24297550 | PATH-SCAN: a reporting tool for identifying clinically actionable variants. | Pac Symp Biocomput | 2014 |
| 24297550 | PATH-SCAN: a reporting tool for identifying clinically actionable variants. | Pac Symp Biocomput | 2014 |
| 25192044 | Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. | Am J Hum Genet | 2014 |
| 25192044 | Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. | Am J Hum Genet | 2014 |
| 18045785 | GRSDB2 and GRS_UTRdb: databases of quadruplex forming G-rich sequences in pre-mRNAs and mRNAs. | Nucleic Acids Res | 2008 |
| 18045785 | GRSDB2 and GRS_UTRdb: databases of quadruplex forming G-rich sequences in pre-mRNAs and mRNAs. | Nucleic Acids Res | 2008 |