Publications
Filters: Author is Lappalainen, Tuuli [Clear All Filters]
Epigenome-wide association study of mitochondrial genome copy number. Hum Mol Genet. 2021 ;31(2):309-319.
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. Genetics. 2023 ;224(4).
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 ;.
. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 ;103(2):171-187.
. Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 ;342(6154):1235587.
. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 2022 ;109(5):857-870.
. Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun. 2020 ;11(1):5182.
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