Author

Priyanka Saha

Stanford MedicineORCID 0000-0001-5106-9751Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Priyanka Saha1 paper

Biology Disciplines

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Genetics· 2 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

James Rush PriestiD· 4 shared Erik IngelssoniD· 2 shared Euan Angus AshleyiD· 2 shared Praneetha Potiny· 2 shared Stefan GustafssoniD· 2 shared Aldo Córdova‐PalomeraiD· 1 shared Anna Liakhovitskaia· 1 shared Apostol NakeviD· 1 shared

Activity by Year

2018-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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4 shared papersGenetics

James Rush PriestORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicinePLoS GeneticsPeer-reviewedNov 23, 2020

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…·James Rush Priest

16 citations

humanelectronic health records

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GeneticsbioRxivPreprintAug 1, 2019

Large-scale examination of neuropsychiatric, cognitive and cardiovascular phenotypic associations with 15q11.2 BP1-BP2 deletion in ~500,000 UK Biobank individuals

Simon G. Williams, Apostol Nakev, Hui Guo…·Bernard D. Keavney

This study examines the association of a 15q11.2 BP1-BP2 deletion with neuropsychiatric, cognitive, and cardiovascular phenotypes in ~500,000 UK Biobank individuals, finding increased prevalence in disease cases and reduced cognitive function in carriers.

1 citation

humanGWAS summary statistics

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BioinformaticsNature CommunicationsPeer-reviewedJul 15, 2019

Weakly supervised classification of aortic valve malformations using unlabeled cardiac MRI sequences

Jason Fries, Paroma Varma, Vincent S. Chen…·James Rush Priest

This paper develops a weakly supervised deep learning model to classify aortic valve malformations using unlabeled cardiac MRI sequences, showing improved performance over supervised models.

103 citationstop 5%

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GeneticsGenetic EpidemiologyPeer-reviewedDec 4, 2018

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…·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.

36 citations

humanwhole-exome sequencing

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