Faculty profile

Hanna Faghfoury

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Associate ProfessorDepartment of MedicineUniversity of Toronto

Hanna Faghfoury

Associate Professor

Department of Medicine

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
9 publications in the last five years, latest in 2026.
Senior (last) author on 1 recent paper, a sign of leading a research group.

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

Academic metrics

Publications

612

Citations

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

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study
Genetics in Medicine Open · 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
European Journal of Human Genetics · 2026
Growing pains: adult subspecialist perspectives on improving transition from paediatric to adult care for youth with complex health conditions.
BMJ open quality · 2026

All 25 publications

Latest funding

The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
CIHR · 2021 · Co-investigator
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
CIHR · 2020 · Co-investigator
$100,000
The Genetics Navigator: A novel digital platform for delivering personalized genetic services
CIHR · 2020 · Co-investigator
$2,000,000

All 3 grants and awards

25 publications.

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study

Casalino S, Aujla N, Frangione E, Mahajan R, Di Iorio D, Fung CYJ, Jayachandran L, MacDonald G, Morgan G, Wolday D

Genetics in Medicine Open2026Open Access

DOI: 10.1016/j.gimo.2026.104372

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia

Marion Aubert‐Mucca, Roberto Mendoza‐Londono, Valérie Cormier‐Daire, Thomas Édouard, Lucie Dupuis, Andrew W. Howard, Olivier Patat, Hanna Faghfoury, Josh Silver, R Touraine, Philippe M. Campeau, Alban C. Ziegler

European Journal of Human Genetics2026

DOI: 10.1038/s41431-026-02176-w PMID: 42414553

Growing pains: adult subspecialist perspectives on improving transition from paediatric to adult care for youth with complex health conditions.

Malecki S, Nwebube C, Orkin J, Halperin I, Khan N, John T, Katzberg H, Steiman A, Matta R, Abdelhalim T, Andrade DM, Bollegala N, Bush S, Ryan C, Colapinto K, Dimaraki E, Faghfoury H, Fu J, Gakhal N, Gent K, Korenblum C, Lansang P, Lega IC, Lim-Fat MJ, Liu J, Miranda S, Mukerji G, Pagnoux C, Vandepoele E, Vinik O, Wentzel K, Yates D, Cohen E, Toulany A

BMJ open quality2026Open Access

DOI: 10.1136/bmjoq-2026-004387 PMID: 42648749

Eurocentric Bias in Dysmorphology and Medical Genetics Education.

Prendergast AB, Sullivan E, Mackley MP, Faghfoury H

American journal of medical genetics. Part A2026Senior author

DOI: 10.1002/ajmg.a.70081 PMID: 41708492

The spectrum of copy number variation in the Pan-Canadian HostSeq databank.

Aujla N, Thiruvahindrapuram B, Casalino S, Frangione E, Mahajan R, Di Iorio D, Fung CYJ, Jayachandran L, MacDonald G, Morgan G, Wolday D, Young J, Arshad M, Clausen M, Arnoldo S, Binnie A, Borgundvaag B, Chowdhary S, Dagher M, Devine L, Friedman SM, Gingras AC, Goneau LW, Khan Z, Lapadula E, Mazzulli T, McGeer A, McLeod S, Mighton C, Pugh TJ, Richardson D, Simpson J, Stern S, Taher A, Strug L, Bombard Y, Faghfoury H, Greenfeld E, CGEn HostSeq Initiative, Scherer SW, Taher J, Noor A, Lerner-Ellis J

PloS one2026

DOI: 10.1371/journal.pone.0359210 PMID: 42789588

Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada.

Yin GS, Shao Z, Faghfoury H, Ballios BG

Ophthalmology. Retina2025

DOI: 10.1016/j.oret.2024.08.007 PMID: 39154861

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

Clausen M, Krishnapillai S, Hirjikaka D, Kodida R, Shickh S, Reble E, Mighton C, Sam J, Adi-Wauran E, Baxter NN

Genetics in Medicine Open202416 citationsOpen Access

DOI: 10.1016/j.gimo.2024.101814

A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study.

Casalino S, Mighton C, Clausen M, Frangione E, Aujla N, MacDonald G, Young J, Fung CYJ, Morgan G, Arnoldo S, Bearss E, Binnie A, Borgundvaag B, Chowdhary S, Dagher M, Devine L, Friedman SM, Hao L, Khan Z, Lane W, Lapadula E, Lebo M, Richardson D, Stern S, Strug L, Taher A, Greenfeld E, Noor A, Faghfoury H, Taher J, Bombard Y, Lerner-Ellis J, GENCOV Study Workgroup

Genetics in medicine : official journal of the American College of Medical Genetics20246 citationsOpen Access

DOI: 10.1016/j.gim.2024.101272 PMID: 39301805

Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.

Bhandari V, Kim R, Faghfoury H, Silver J, Chan RH, Ding Q, Schwartz MLB, Bril V

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques20242 citationsOpen Access

DOI: 10.1017/cjn.2023.257 PMID: 37577974

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J

Journal of medical genetics202133 citationsOpen Access

DOI: 10.1136/jmedgenet-2020-106936 PMID: 32581083

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

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Hanna Faghfoury

Research

Latest papers

Latest funding

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia

Growing pains: adult subspecialist perspectives on improving transition from paediatric to adult care for youth with complex health conditions.

Eurocentric Bias in Dysmorphology and Medical Genetics Education.

The spectrum of copy number variation in the Pan-Canadian HostSeq databank.

Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada.

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study.

Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.

Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

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

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

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

Frequent collaborators

Jordan Lerner-Ellis

Yvonne Bombard

Joyce So

Abdul Noor

Raymond Kim

Jennifer Taher

David Chitayat

Alexandra Binnie

Elena Greenfeld

Saranya Arnoldo

Luke Devine

Ahmed Taher

Timo Krings

Kym Boycott

Anne-Claude Gingras

Mark Tarnopolsky

Allison McGeer

Dennis Bulman

Tony Mazzulli

Arnon Adler

Peter Tai

Ilana Halperin

Hans Katzberg

Colleen Parker

Christian Pagnoux

Louis Liu

Jessica Liu

Sarah Malecki

Shelley McLeod

Christian Veillette

Adena Scheer

P. Slepian

Robert Bleakney

Natasha Gakhal

Roberto Mendoza-Londono