Author

M. E. Suzanne Lewis

University of British ColumbiaORCID 0000-0002-6300-5381Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Alana Iaboni· 2 shared Brett TrostiD· 2 shared Christian R. MarshalliD· 2 shared Delnaz RoshandeliD· 2 shared Evdokia A. AnagnostouiD· 2 shared Jacob A. S. VorstmaniD· 2 shared Jennifer Howe· 2 shared Kristina CalliiD· 2 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alana Iaboni

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2 papers

Recent·Most cited

Genomic architecture of autism spectrum disorder from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe, Livia Oliveira Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, , Evdokia A. Anagnostou

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

medRxiv · May 5, 2022 · PreprintGenetic & Genomic Medicine

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia Oliveira Loureiro, Jennifer Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan M Moses, Julie Deborah Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, , Stephen W. Scherer

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

npj Genomic Medicine · Nov 4, 2021Peer-reviewedGenetic & Genomic Medicine