Author

Eric J Fombonne

Oregon Health & Science UniversityORCID 0000-0002-8605-3538Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Approach:matrix factorization· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Brian J. O’RoakiD· 3 shared Raphael BernieriD· 2 shared Rebecca Barnard· 2 shared Ahmad S. Chatha· 1 shared Akhila BalasubramanianiD· 1 shared Alexander HsiehiD· 1 shared Alexies Camba· 1 shared Ali S. FatemiiD· 1 shared

Activity by Year

2017-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Brian J. O’RoakORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMay 21, 2020

An integrated deep mutational scanning approach provides clinical insights on PTEN genotype-phenotype relationships

Taylor L. Mighell, Stetson Thacker, Eric J Fombonne…·Brian J. O’Roak

This study combines deep mutational scanning data with clinical data to link PTEN variants to specific clinical outcomes and risk levels.

54 citationstop 3%

humanstatistical model

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Geneticsnpj Genomic MedicinePeer-reviewedAug 23, 2019

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

Pamela Feliciano, Xueya Zhou, Irina Astrovskaya…·Brenda Hauf

The paper reports exome sequencing of 457 ASD families, identifying 10.4% with known ASD genes and 3.4% with possibly associated variants, and provides statistical support for 34 ASD risk genes using the TADA framework.

247 citationstop 1%

humanwhole-exome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedAug 31, 2017

Exonic mosaic mutations contribute risk for autism spectrum disorder

Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd…·Brian J. O’Roak

The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.

204 citationstop 1%

humanwhole-exome sequencing

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