Author

Marie E. Faughnan

St. Michael's HospitalORCID 0000-0002-3746-383XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carol J. Gallione· 1 shared Daniel A. SnellingsiD· 1 shared Dewi S. ClarkiD· 1 shared Douglas A. MarchukiD· 1 shared Nicholas T. VozorisiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

5 top collaborators · 10 mutual co-author links

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1 shared paperGenetics

Carol J. Gallione

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1 paper

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedOct 17, 2019

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of ENG or ACVRL1

Daniel A. Snellings, Carol J. Gallione, Dewi S. Clark…·Douglas A. Marchuk

The paper identifies biallelic loss of ENG or ACVRL1 through somatic mutations in HHT-related telangiectasia, supporting a two-hit mechanism over haploinsufficiency.

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humanwhole-exome sequencing

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