Author

Ada J. S. Chan

Hospital for Sick Children

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

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bhooma ThiruvahindrapuramiD· 2 shared Brett TrostiD· 2 shared Bridget A. FernandeziD· 2 shared Evdokia A. AnagnostouiD· 2 shared Giovanna PellecchiaiD· 2 shared Jacob A. S. VorstmaniD· 2 shared Jeffrey R. MacDonaldiD· 2 shared Jennifer Howe· 2 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Bhooma ThiruvahindrapuramORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer Howe, Jacob A. S. Vorstman, , Stephen W. Scherer

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

Nature Communications · Oct 29, 2022Peer-reviewedGenetic & Genomic Medicine

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