Author

Emmi Helle

University of HelsinkiORCID 0000-0001-8993-2194Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

James Rush PriestiD· 2 shared Tiina H. OjalaiD· 2 shared Aldo Córdova‐PalomeraiD· 1 shared Deborah A. NickersoniD· 1 shared Erik IngelssoniD· 1 shared Euan Angus AshleyiD· 1 shared FinnGeniD· 1 shared Hanna Maria OllilaiD· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

James Rush PriestORCID

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2 papers

Recent·Most cited

Genomic and transcriptomic data analyses highlight KPNB1 and MYL4 as novel risk genes for congenital heart disease

Martin E. Broberg, Minna Ampuja, Samuel E. Jones, Tiina H. Ojala, Otto P. Rahkonen, Riikka Kivelä, James Rush Priest, FinnGen, Hanna Maria Ollila, Emmi Helle

The paper identifies KPNB1 and MYL4 as novel risk genes for congenital heart disease through GWAS, eQTL analysis, and functional validation in patient-derived cardiomyocytes.

medRxiv · Jan 7, 2022 · PreprintGenetic & Genomic Medicine

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

Emmi Helle, Aldo Córdova‐Palomera, Tiina H. Ojala, Priyanka Saha, Praneetha Potiny, Stefan Gustafsson, Erik Ingelsson, Michael J. Bamshad, Deborah A. Nickerson, Jessica X. Chong, Euan Angus Ashley, James Rush Priest

The paper quantifies the risk of left ventricular outflow tract obstructive heart defects (LVOTO) from different NOTCH1 variants in two European cohorts, identifying significant intronic variants and loss-of-function variants as risk factors.

Genetic Epidemiology · Dec 4, 2018Peer-reviewedGenetics