Faculty profile

Stephen Scherer

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ProfessorDepartment of Molecular GeneticsUniversity of Toronto

Stephen Scherer

Professor

Department of Molecular Genetics

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

ORCID

Supervision signals

Professors usually supervise graduate students in their department's programs.
3 publications in the last five years, latest in 2024.
Principal investigator on 9 research grants (9 CIHR), most recently in 2014.
Supervised 7 trainees who won CIHR awards, most recently in 2023.

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

Citations

h-index

Collaborators

Grants

Publications by year

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

Education

Ph.D.
M.Sc.
B.Sc. (Hon)

Profiles and links

University Profile Search on Google Scholar iDORCID

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Signals and details

Research

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

Whole Genome Sequencing Cytogenomics Dna & Chromosome Variation Genomic Microarray Autism Spectrum Disorders Diagnostics Individualized Treatment Variants

Latest papers

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
The journal of allergy and clinical immunology. Global · 2024
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Human molecular genetics · 2023
Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI)
BMJ Open · 2022

All 9 publications

Latest funding

Let's Be Precise: Harnessing the diversity of the CHILD study to improve asthma outcomes for all.
CIHR · 2024 · Co-investigator
$19,995
Polygenic Likelihood Analysis for Prediction of Autism Spectrum Disorder using Machine Learning Approaches
CIHR · 2023 · Supervisor
$90,000
Clinical Translation of a Genetic Diagnosis for Mental Health in Autism: Linking Genome Sequencing Data to Health Administrative Data
CIHR · 2023 · Co-investigator
$366,353

All 39 grants and awards

9 publications.

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y, Vong L, Merico D, Abrego Fuentes L, Scott O, Sham M, Fraser M, Watts-Dickens A, Willett Pachul J, Kim VHD, Marshall CR, Scherer S, Roifman CM

The journal of allergy and clinical immunology. Global2024

DOI: 10.1016/j.jacig.2024.100267 PMID: 38800615

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Awamleh Z, Choufani S, Cytrynbaum C, Alkuraya FS, Scherer S, Fernandes S, Rosas C, Louro P, Dias P, Neves MT, Sousa SB, Weksberg R

Human molecular genetics2023

DOI: 10.1093/hmg/ddac289 PMID: 36440975

Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI)

Norris SA, Draper CE, Prioreschi A, Smuts C, Ware LJ, Dennis C, Awadalla P, Bassani D, Bhutta Z, Briollais L

BMJ Open202255 citationsOpen Access

DOI: 10.1136/bmjopen-2021-059914 PMID: W4224238503

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA

Genetics in medicine : official journal of the American College of Medical Genetics2021

DOI: 10.1038/s41436-021-01204-y PMID: 34145395

Protocol for a randomised trial evaluating a preconception-early childhood telephone-based intervention with tailored e-health resources for women and their partners to optimise growth and development among children in Canada: a Healthy Life Trajectory Initiative (HeLTI Canada)

Dennis C-L, Marini F, Dick JA, Atkinson S, Barrett J, Bell R, Berard A, Berger H, Brown HK, Constantin E

BMJ Open202132 citationsOpen Access

DOI: 10.1136/bmjopen-2020-046311 PMID: W3127363048

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

da Silva Montenegro EM, Costa CS, Campos G, Scliar M, de Almeida TF, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenço NCV, Yamamoto GL, Scherer S, Passos-Bueno MR

Autism research : official journal of the International Society for Autism Research2020

DOI: 10.1002/aur.2238 PMID: 31696658

Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma.

Hoffman M, Gillmor AH, Kunz DJ, Johnston MJ, Nikolic A, Narta K, Zarrei M, King J, Ellestad K, Dang NH, Cavalli FMG, Kushida MM, Coutinho FJ, Zhu Y, Luu B, Ma Y, Mungall AJ, Moore R, Marra MA, Taylor MD, Pugh TJ, Dirks PB, Strother D, Lafay-Cousin L, Resnick AC, Scherer S, Senger DL, Simons BD, Chan JA, Morrissy AS, Gallo M

Cancer research2019

DOI: 10.1158/0008-5472.can-18-3441 PMID: 30877103

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).

Uddin KMF, Amin R, Majumder SN, Aleem MA, Rahaman A, Dity NJ, Baqui MDA, Akter H, Rahman MM, Woodbury-Smith M, Scherer S, Uddin M

Clinical case reports2018

DOI: 10.1002/ccr3.1595 PMID: 30147876

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.

Cameron JM, Levandovskiy V, Roberts W, Anagnostou E, Scherer S, Loh A, Schulze A

International journal of molecular sciences2017

DOI: 10.3390/ijms18081665 PMID: 28758966

Profile data last refreshed on September 25, 2026 from the university directory, publication records and CIHR, NSERC and SSHRC funding.

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Stephen Scherer

Research

Latest papers

Latest funding

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.

Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI)

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Protocol for a randomised trial evaluating a preconception-early childhood telephone-based intervention with tailored e-health resources for women and their partners to optimise growth and development among children in Canada: a Healthy Life Trajectory Initiative (HeLTI Canada)

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma.

An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome).

Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.

Frequent collaborators

Stephen Lye

Rosanna Weksberg

Laurent Briollais

Deborah Da Costa

Patricia Li

Cindy-Lee Dennis

Peter Szatmari

Kevin Thorpe

Jill Hamilton

Anick Bérard

Simone Vigod

Mark Walker

Catherine Birken

Sarah Kimmins

Evdokia Anagnostou

Anick Bérard

Zulfiqar Bhutta

Suzanne Tough

Howard Berger

Philip Awadalla

Andrea Feller

Peter Szatmari

Magdalena Janus

Stephanie Atkinson

Deborah Sloboda

Joel Ray

Astrid Guttmann

Nicole Letourneau

Robyn Stremler