Author

Praneetha Potiny

Stanford Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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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 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Erik IngelssoniD· 2 shared James Rush PriestiD· 2 shared Priyanka SahaiD· 2 shared Stefan GustafssoniD· 2 shared Aldo Córdova‐PalomeraiD· 1 shared Catherine TcheandjieuiD· 1 shared Deborah A. NickersoniD· 1 shared Emmi HelleiD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Erik IngelssonORCID

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2 papers

Recent·Most cited

A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population

Catherine Tcheandjieu, Matthew Aguirre, Stefan Gustafsson, Priyanka Saha, Praneetha Potiny, Melissa Anne Haendel, Erik Ingelsson, Manuel A. Rivas, James Rush Priest

PLoS Genetics · Nov 23, 2020Peer-reviewedGenetic & 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