Faculty profile

Christian Marshall

Dr Marshall also serves as a Scientist at SickKids Centre for Applied Genomics (TCAG) and Centre for Genetic Medicine.Department of Laboratory Medicine & PathobiologyUniversity of Toronto

Christian Marshall

Dr Marshall also serves as a Scientist at SickKids Centre for Applied Genomics (TCAG) and Centre for Genetic Medicine.

Department of Laboratory Medicine & Pathobiology

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

This is a research or leadership role; ask the department whether it includes supervision.
89 publications in the last five years, latest in 2026.
Senior (last) author on 2 recent papers, a sign of leading a research group.

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Academic metrics

337

Publications

34,516

Citations

328

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Profiles and links

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Signals and details

Research

Read how they describe their research on their University of Toronto profile.

Latest papers

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.
Genetics in medicine : official journal of the American College of Medical Genetics · 2026

All 337 publications

Latest funding

Developing long-read genome sequencing as a clinical genetic test for infantile epilepsy
CIHR · 2024 · Co-investigator
$150,000
TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis
CIHR · 2023 · Co-investigator
$1,375,000
A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)
CIHR · 2023 · Co-investigator
$1,374,619

All 15 grants and awards

From the 150 most recent of 337 publications.

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

Hayeems RZ, Ungar WJ, Marshall CR, Gillespie MK, Szuto A, Huang L, Venkataramanan V, Xiao B, Chisholm C, Stavropoulos DJ, Bergeron MB, Lee W, Costain G, Jobling R, Sawyer S, Price EM, Lau L, Mendoza R, Somerville MJ, Boycott KM

Genetics in medicine : official journal of the American College of Medical Genetics20264 citations

DOI: 10.1016/j.gim.2025.101605 PMID: 41084864

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

Cheerie D, Lauffer MC, Newton L, Amburgey K, Beijer D, Haque B, Kalish BT, Meserve MM, Oh RY, Pan AY, Reuter MS, Szego MJ, Szuto A, N=1 Collaborative, Aartsma-Rus A, Axford MM, Deshwar AR, Dowling JJ, Marshall CR, Ivakine Z, Synofzik M, Yu TW, Costain G

Genetics in medicine : official journal of the American College of Medical Genetics20263 citations

DOI: 10.1016/j.gim.2025.101597 PMID: 41090344

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

Ungar WJ, Wu V, Marshall CR, Hwang J, Hayeems RZ, Tsiplova K, Gillespie MK, Szuto A, Chisholm C, Stavropoulos DJ, Venkataramanan V, Xiao B, Costain G, Bergeron MB, Sawyer S, Lau L, Huang L, Mendoza-Londono R, Somerville MJ, Boycott KM, GSO Study Team

Genetics in medicine : official journal of the American College of Medical Genetics20262 citationsOpen Access

DOI: 10.1016/j.gim.2025.101561 PMID: 40852796

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.

Stephenson KAJ, Shao Z, Tumber A, Tavares E, Ahmed K, Higginbotham EJ, Marshall CR, Maynes JT, Rajala A, Rajala RVS, Héon E, Vincent A

Clinical genetics20261 citationsOpen Access

DOI: 10.1111/cge.70128 PMID: 41459630

Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.

Al Masseri Z, Marshall CR, Martin N, Cordeiro D, Guilder L, Inbar-Feigenberg M

Frontiers in genetics2026Open Access

DOI: 10.3389/fgene.2026.1912912 PMID: 42713553

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

Lerner-Ellis J, Fisher Y, Zawati MH, Agatep R, Antonishyn N, Bosdet I, Boycott KM, King I, Lamont RE, Marshall CR, Martinez VD, Nelson TN, O'Rielly D, Yip S, Shantz B, Herscovich A, Price EM, Canadian College of Medical Geneticists,, Hartley T, Chun K

American journal of human genetics2026Open Access

DOI: 10.1016/j.ajhg.2026.09.001 PMID: 42772292

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

Jari M. T. Lahti, Franziska Ritschel, Dorret Irene Boomsma, Christian Dina, Alessandro Rotondo, Peter Zill, Benjamin W. Domingue, Benjamin M. Neale, Palmiero Monteleone, Ina Giegling, Richard Sherva, Stephan Ripke, Toni‐Kim Clarke, Stefan Herms, Cynthia Marie Bulik, Maurizio Clementi, Nöthen, Markus M, Joanna M. Biernacka, Shuyang Yao, Annemarie Elburg, Katrin Männik, Anjali K. Henders, Jolanta Lissowska, John R. Kramer, Eleftheria Zeggini, Antonio Julià, Esther Walton, VICTOR M. HESSELBROCK, Roseann Elizabeth Peterson, Alessio Maria Monteleone, et al. (352 authors)

Archive ouverte UNIGE (University of Geneva)2026Open Access

DOI: 10.17615/9jk0-cr18

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Helal S, Pipko N, Liang Y, Levine A, Carnevale A, Szuto A, Marshall CR, Costain G, Deshwar AR, Yoon G

Neurogenetics2026

DOI: 10.1007/s10048-026-00925-z PMID: 42599553

The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies

Si Lok, Timothy NH Lau, Amy HY Tong, Brett Trost, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Tara Paton, Jeffrey R. MacDonald, Lynette Lau, Christian R. Marshall, J. Craig Venter, Stephen W. Scherer

medRxiv2026Open Access

DOI: 10.64898/2026.05.01.26352134

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Howell KB, White SM, McTague A, D'Gama AM, Costain G, Poduri A, Scheffer IE, Chau V, Smith LD, Stephenson SEM, Wojcik M, Davidson A, Sebire N, Sliz P, Beggs AH, Chitty LS, Cohn RD, Marshall CR, Andrews NC, North KN, Cross JH, Christodoulou J, Scherer SW

NPJ genomic medicine202514 citationsOpen Access

DOI: 10.1038/s41525-025-00474-8 PMID: 40016282

Developing long-read genome sequencing as a clinical genetic test for infantile epilepsy

Co-investigatorCIHR2024Operating Grant: ECRs in Human Development, Child and Youth Health

Principal investigators: Costain, Gregory

Keywords: Epilepsy; Genetic Testing; Genome Sequencing; Paediatrics; Pharmacogenetics

$150,000

TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis

Co-investigatorCIHR2023Team Grant: Improving Diagnosis for Rare Disease Patients

Principal investigators: Costain, Gregory; Caluseriu, Oana; Kim, Raymond; Boycott, Kym M

Keywords: Care Pathway; Diagnostics; Economic Impact; Genome Sequencing; Genomic Testing; Health Outcomes; Randomized Controlled Trial; Rare Diseases

$1,375,000

A Canadian knowledge-to-action roadmap for evidence-informed implementation of first-tier clinical genome-wide sequencing for rare disease (K2A-RD)

Co-investigatorCIHR2023Team Grant: Improving Diagnosis for Rare Disease Patients

Principal investigators: Boycott, Kym M; Caluseriu, Oana; Hartley, Taila S

Keywords: Clinical Genetics; Clinical Practice Guidelines; Economic Impact; Genomics; Health Outcomes; Knowledge Mobilization; Knowledge Synthesis; Qualitative Interviews; Rare Disease

$1,374,619

Chasing stochastics, a multidisciplinary approach to develop genetic models predicting the likelihood of stochastic events.

Co-investigatorSSHRC2023New Frontiers in Research Fund - Exploration

Principal investigators: Breetvelt, Elemi

Keywords: regional burden; Dario Rerio; Genetic Risk Prediction; Genetic Epidemiology; Scoliosis; Schizophrenia; ASD; precision medicine; translation research

$250,000

Gene-STEPS: a multi-centre prospective evaluation of rapid whole genome sequencing in neonatal- and infantile-onset epilepsy

Co-investigatorCIHR2022Project Grant

Principal investigators: Costain, Gregory

Keywords: Children; Epilepsy; Genetic Testing; Genome Sequencing; Translational Genetics

$841,500

Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)

Co-investigatorCIHR2022Project Grant - PA: Health Economics/Health Services Research in Cancer Control

Principal investigators: Hayeems, Robin Z; Ungar, Wendy J

Keywords: Economic Evaluation; Genomic Medicine; Health Services And Policy Research; Medically Actionable Secondary Findings

$100,000

The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine

Co-investigatorCIHR2021Project Grant - PA: CMA Foundation - Virtual Care

Principal investigators: Bombard, Yvonne; Hayeems, Robin Z

Keywords: E-Health Tools; Genomics; Patient Facing Health Tools; Personalized Healthcare; Randomized Controlled Trial; User-Centered Design

Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)

Co-investigatorCIHR2021Project Grant - Priority Announcement: Patient-Oriented Research

Principal investigators: Hayeems, Robin Z; Ungar, Wendy J

Keywords: Economic Evaluation; Genomic Medicine; Health Services And Policy Research; Medically Actionable Secondary Findings

$100,000

The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine

Co-investigatorCIHR2020Project Grant - PA: Patient-Oriented Research: Early-Career Investigator

Principal investigators: Bombard, Yvonne; Hayeems, Robin Z

Keywords: E-Health Tools; Genomics; Patient Facing Health Tools; Personalized Healthcare; Randomized Controlled Trial; User-Centered Design

$100,000

The Genetics Navigator: A novel digital platform for delivering personalized genetic services

Co-investigatorCIHR2020Team Grant: Personalized Health

Principal investigators: Bombard, Yvonne; Chad, Lauren; Hayeems, Robin Z; Mamdani, Muhammad; Smith, Maureen M

Keywords: Chatbots; Comparative Effectiveness Research; Cost-Effectiveness Analysis; E-Health Tools; Genomic Sequencing; Patient/User Experience; Predictive Algorithms; Qualitative Research; Randomized Controlled Trial; User-Centered Design

$2,000,000

From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Christian Marshall

Research

Latest papers

Latest funding

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.

Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous MTHFR c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism.

Genetic data sharing by clinical laboratories in Canada: A position statement by the Canadian College of Medical Geneticists.

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere Assemblies

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Chasing stochastics, a multidisciplinary approach to develop genetic models predicting the likelihood of stochastic events.

Frequent collaborators

Stephen Scherer

Gregory Costain

Greg Costain

Ryan Yuen

Anne Bassett

Robin Hayeems

Peter Szatmari

Kym Boycott

Ronald Cohn

Jacob Vorstman

Rosanna Weksberg

Michael Brudno

Wendy Ungar

James Kennedy

Brett Trost

Evdokia Anagnostou

Roberto Mendoza-Londono

Sarah Bowdin

Allan Kaplan

Manuel Mattheisen

James Dowling

Eriskay Liston

Russel Schachar

Grace Yoon

Hernan Gonorazky

Vann Chau

Neal Sondheimer

Michal Inbar-Feigenberg

Andreas Schulze

Ajoy Vincent

John Kennedy

Ronald Laxer

Elise Heon

Iris Cohn

Rebekah Jobling

Anne Kawamura

Berge Minassian

Ming Tsao

Elena Pope

Kirk Lo