Faculty profile

Roberto Mendoza-Londono

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Associate ProfessorDepartment of PaediatricsUniversity of Toronto

Roberto Mendoza-Londono

Associate Professor

Department of Paediatrics

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
21 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

2,980

Citations

129

Collaborators

Grants

Publications by year

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

Roles and appointments

Division Head

Profiles and links

University Profile

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Signals and details

Research

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

Latest papers

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
European Journal of Human Genetics · 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Nature communications · 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
European Journal of Human Genetics · 2026

All 62 publications

Latest funding

Skin Investigation Network of Canada (SkIN Canada): Advancing interdisciplinary, patient-relevant research to improve skin health
CIHR · 2023 · Co-investigator
$2,000,000
TRIAGE-GS: a randomized controlled trial of a genomics-first approach to rare disease diagnosis
CIHR · 2023 · Co-investigator
$1,375,000
Genome-wide Sequencing: Secondary Findings Impact Study (SF-Impact Study)
CIHR · 2022 · Co-investigator
$100,000

All 4 grants and awards

62 publications.

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

Mackley MP, Dickson MA, Szuto A, Anderson J, Chitayat D, Hayeems RZ, Mendoza-Londono R, Ng E, Offringa M, Wang YW

European Journal of Human Genetics20261 citationsOpen Access

DOI: 10.1038/s41431-025-02012-7

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MCH, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG

Nature communications20261 citationsOpen Access

DOI: 10.1038/s41467-026-68284-9 PMID: 41577671

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

A Phase 3 Trial of Vosoritide in Children with Hypochondroplasia

Andrew Dauber, Ravi Savarirayan, Philippe M. Campeau, Ricki Carroll, Moira Cheung, Valérie Cormier-Daire, Josep Maria De Bergua, Thomas Edouard, Michaela Veronika Gonfiantini, Julie Hoover-Fong, Peter Kannu, Yutaka Kinoshita, Takuo Kubota, Roberto Mendoza‐Londono, Noriyuki Namba, Yasuhisa Ohata, Roberta Onesimo, Katja Palm, Carlos E. Prada, Rachel Reynaud, Massimiliano Rossi, Oliver Semler, Kei Takasawa, Roberto Bassi, Sajda Ghani, Alice Huntsman Labed, Dane Osmond, Ian Sabir, Jeanette White, Mohamad Maghnie

NEJM Evidence2026

DOI: 10.1056/evidoa2600257 PMID: 42713641

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Stark JC, Pipko N, Liang Y, Szuto A, Tsoi CT, Dickson MA, Yuki KE, Hou H, Scholten S, Pulsifer K, Acker M, Laver M, Murthy H, Moran OM, Bonnell E, Liang N, Sidhu J, Dupuis L, Seno MMG, Care4Rare Canada Consortium, Chard M, Jobling RK, Cameron J, Chami R, Inbar-Feigenberg M, Wilson MD, Chitayat DA, Boycott KM, Kyriakopoulou L, Mendoza-Londono R, Marshall CR, Dowling JJ, Costain G, Deshwar AR

Genome medicine202512 citationsOpen Access

DOI: 10.1186/s13073-025-01494-w PMID: 40597352

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 medicine20254 citationsOpen Access

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

Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.

Pipko N, Oh RY, Kaplan A, Shugar A, Szuto A, Weinstein M, Yoon G, Mendoza-Londono R, Pope E, Young T, Marshall CR, Costain G, Lara-Corrales I, Wang Y

The British journal of dermatology20251 citations

DOI: 10.1093/bjd/ljae462 PMID: 39579378

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

Stanley KJ, Chisholm C, Gillespie MK, Caluseriu O, Del Signore N, Elango S, Hartley T, Hewson S, Kim RH, McSheffrey G, Mendoza-Londono R, Sawyer SL, Somerville M, Venkataramanan V, White-Brown A, Telesca S, Shickh S, Marshall CR, Ungar WJ, Hayeems RZ, Bhawra J, Boycott KM, Costain G

BMJ open2025Open Access

DOI: 10.1136/bmjopen-2025-107603 PMID: 40784761

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G

HGG advances202417 citationsOpen Access

DOI: 10.1016/j.xhgg.2024.100299 PMID: 38659227

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK

Genetics in Medicine202410 citationsOpen Access

DOI: 10.1016/j.gim.2023.101012

Skin Investigation Network of Canada (SkIN Canada): Advancing interdisciplinary, patient-relevant research to improve skin health

Co-investigatorCIHR2023Network Gr. in Skin Health, Bone Health, and Muscular Dyst. - Skin Health

Principal investigators: Chan, An-Wen; Manion, Rachael; Drucker, Aaron M; Dutz, Jan P; Fradette, Julie; Germain, Lucie; Gniadecki, Robert; Grimshaw, Jeremy M; Litvinov, Ivan V; Logsetty, Sarvesh; Mydlarski, Paule R; Philip, Anie; Piguet, Vincent; Zhou, Youwen

Keywords: Clinical Trials; Observational Studies; Research Network; Skin Health; Skin Research; Translational Research

$2,000,000

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

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

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

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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Roberto Mendoza-Londono

Research

Latest papers

Latest funding

Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

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

A Phase 3 Trial of Vosoritide in Children with Hypochondroplasia

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

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

Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.

Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Skin Investigation Network of Canada (SkIN Canada): Advancing interdisciplinary, patient-relevant research to improve skin health

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

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

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

Frequent collaborators

Christian Marshall

Greg Costain

Gregory Costain

Stephen Scherer

Peter Kannu

Rosanna Weksberg

James Dowling

David Chitayat

Ronald Cohn

Robin Hayeems

Andrew Howard

Grace Yoon

Michael Brudno

Lauren Chad

Kym Boycott

Lianna Kyriakopoulou

Taila Hartley

Ashish Marwaha

Michal Inbar-Feigenberg

Sarah Bowdin

Mahendranath Moharir