Publications
Export 140 results:
Author [ Title] Year Filters: First Letter Of Last Name is M [Clear All Filters]
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium. bioRxiv (2020). doi:10.1101/2020.04.09.034454
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods 15, 595-597 (2018).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Synaptic processes and immune-related pathways implicated in Tourette syndrome. Transl Psychiatry 11, 56 (2021).
Regulatory genomic circuitry of human disease loci by integrative epigenomics. Nature 590, 300-307 (2021).
A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife 8, (2019).
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife 8, (2019).
Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife 8, (2019).
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).