2024
Quantifying cell-state densities in single-cell phenotypic landscapes using Mellon
Otto D, Jordan C, Dury B, Dien C, Setty M. Quantifying cell-state densities in single-cell phenotypic landscapes using Mellon. Nature Methods 2024, 21: 1185-1195. PMID: 38890426, DOI: 10.1038/s41592-024-02302-w.Peer-Reviewed Original Research
2019
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications 2019, 10: 4722. PMID: 31624253, PMCID: PMC6797711, DOI: 10.1038/s41467-019-12582-y.Peer-Reviewed Original ResearchConceptsChromatin-modifying genesCilia-related genesGene classesDe novo variantsDistinct gene functionsDamaging de novo variantsBackground mutation rateGene burden analysisNovo variantsGene functionGenetic architectureRecessive formPediatric Cardiac Genomics ConsortiumSporadic congenital heart diseaseMode of inheritancePhenotypic landscapeGene pathwaysDisease genesGenomics ConsortiumMutation rateGenesRecessive genotypeDe novoCompound heterozygous genotypeDe novo forms
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