Faculty profile

Sarah Bowdin

ResearcherComputer ScienceUniversity of Toronto

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a University of Toronto directory, so their courses and email address may be missing. Find their university profile.

Sarah Bowdin

Researcher

Computer Science

Health Sciences

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
1 publication in the last five years, latest in 2025.
Principal investigator on 1 research grant (1 CIHR), most recently in 2012.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

432

Citations

h-index

Collaborators

Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

Profiles and links

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Signals and details

Research

Clinical Genetics Health Informatics Phenotyping Rare Disorders

Latest papers

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
NPJ genomic medicine · 2025
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Genetics in medicine : official journal of the American College of Medical Genetics · 2020
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
European journal of human genetics : EJHG · 2018

All 22 publications

Latest funding

Computerized patient phenotyping to connect canadian clinical genetics clinics
NSERC · 2013 · Co-investigator
$211,500
Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
CIHR · 2012 · Principal investigator
$211,500

All 2 grants and awards

22 publications.

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

Hou H, Yuki KE, Costain G, Szuto A, Barnes S, Ramani AK, Celik A, Braga M, Gloven-Brown M, Stavropoulos DJ, Bowdin S, Cohn RD, Mendoza-Londono R, Scherer SW, Brudno M, Marshall CR, Stephen Meyn M, Shlien A, Dowling JJ, Wilson MD, Kyriakopoulou L

NPJ genomic medicine2025

DOI: 10.1038/s41525-025-00505-4 PMID: 40593860

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Reuter MS, Chaturvedi RR, Liston E, Manshaei R, Aul RB, Bowdin S, Cohn I, Curtis M, Dhir P, Hayeems RZ, Hosseini SM, Khan R, Ly LG, Marshall CR, Mertens L, Okello JBA, Pereira SL, Raajkumar A, Seed M, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK

Genetics in medicine : official journal of the American College of Medical Genetics2020

DOI: 10.1038/s41436-020-0757-x PMID: 32037394

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR

European journal of human genetics : EJHG2018

DOI: 10.1038/s41431-018-0114-6 PMID: 29453418

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Costain G, Kannu P, Bowdin S

European journal of medical genetics2018Senior author

DOI: 10.1016/j.ejmg.2017.11.002 PMID: 29133209

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR

Genetics in medicine : official journal of the American College of Medical Genetics2018

DOI: 10.1038/gim.2017.119 PMID: 28771251

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH, National Institutes of Health Clinical Genome Resource Consortium

Circulation2018

DOI: 10.1161/circulationaha.118.035070 PMID: 29959160

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ

European journal of human genetics : EJHG2017

DOI: 10.1038/s41431-017-0020-3 PMID: 29158552

Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease.

Zahavich L, Bowdin S, Mital S

Circulation. Cardiovascular genetics2017

DOI: 10.1161/circgenetics.116.001581 PMID: 28473349

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S

NPJ genomic medicine2017

DOI: 10.1038/s41525-017-0021-8 PMID: 29263831

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D

Journal of medical genetics2016

DOI: 10.1136/jmedgenet-2015-103250 PMID: 26490104

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Sarah Bowdin

Research

Latest papers

Latest funding

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease.

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Computerized patient phenotyping to connect canadian clinical genetics clinics

Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics

Frequent collaborators

Gregory Costain

Michael Brudno

Eriskay Liston

Rosanna Weksberg

David Chitayat

Shinya Ito

Peter Kannu

Raymond Kim

Ayeshah Chaudhry

Seema Mital

Alison Elliott

David Malkin

Adam Shlien

Siew-Ging Gong

Lauren Chad

Christoph Licht

Luc Mertens

Linda Hiraki

Tapas Mondal

Resham Ejaz