Author

Mehdi Zarrei

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

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Genetic & Genomic Medicine· 5 Genomics· 2

Signature Assays, Organisms & Methods

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Organism:human· 7 Approach:statistical model· 7 Assay:whole-genome sequencing· 4 Research Focus:variant calling· 3 Research Focus:differential expression· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Stephen W. SchereriD· 6 shared Brett TrostiD· 5 shared Giovanna PellecchiaiD· 5 shared Jacob A. S. VorstmaniD· 5 shared Thomas NalpathamkalamiD· 5 shared Worrawat EngchuaniD· 5 shared Bhooma ThiruvahindrapuramiD· 4 shared Christian R. MarshalliD· 4 shared

Activity by Year

2020-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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6 shared papersGenetic & Genomic Medicine

Stephen W. SchererORCID

Mutual co-authors in cluster

Author profile →

7 papers

Recent·Most cited

Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism

Worrawat Engchuan, Kara Han, Rayssa M.M.W. Feitosa, Nelson Bautista Salazar, David J. Mager, Shania Wu, Faraz Ali, Alex W.H. Chan, Marla Mendes de Aquino, Xiaopu Zhou, Rulan Shaath, Nickie Safarian, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, , Jacob A. S. Vorstman

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

medRxiv · Oct 17, 2025 · PreprintGenetic & Genomic Medicine

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

Gene copy number variation in pediatric mental illness in a general population

Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edward J. Higginbotham, John Wei, Sabah Shaikh, Nicole M. Roslin, Jeffrey R. MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam, Sylvia Lamoureux, Roozbeh Manshaei, Jennifer Howe, Brett Trost, Bhooma Thiruvahindrapuram, , Stephen W. Scherer

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

medRxiv · Sep 12, 2022 · PreprintGenetic & 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

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

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

Satyamaanasa Polubothu, Lara Al-Olabi, Daniël A. Lionarons, Mark Harland, Anna C. Thomas, Stuart D. Horswell, Lilian Hunt, Nathan Wlodarchak, Aguilera Paula, Sarah Brand, Dale Bryant, Philip L. Beales, Cristina Carrera, Hui Chen, Greg S Elgar, , Veronica A. Kinsler

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

Genetics in Medicine · Jun 18, 2021Peer-reviewedGenomics

Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

Roozbeh Manshaei, Daniele Merico, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv R Chaturvedi, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, , Anne S. Bassett

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.

Frontiers in Genetics · Sep 15, 2020Peer-reviewedGenomics