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Lianna Kyriakopoulou

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Associate ProfessorDepartment of Laboratory Medicine & PathobiologyUniversity of Toronto

Lianna Kyriakopoulou

Associate Professor

Department of Laboratory Medicine & Pathobiology

Temerty Faculty of Medicine

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
5 publications in the last five years, latest in 2025.
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

560

Citations

Collaborators

Publications by year

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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

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Genome medicine · 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
NPJ genomic medicine · 2025 · senior author
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nature cancer · 2023

All 12 publications

12 publications.

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 citationsSenior authorOpen Access

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

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, Hayes R, Anderson ND, Ramani AK, Yuki KE, Blay S, Johnstone B, Inglese C, Hammad R, Goudie C, Shuen A, Wasserman JD, Venier RE, Eliou M, Lorenti M, Ryan CA, Braga M, Gloven-Brown M, Han J, Montero M, Spatare F, Whitlock JA, Scherer SW, Chun K, Somerville MJ, Hawkins C, Abdelhaleem M, Ramaswamy V, Somers GR, Kyriakopoulou L, Hitzler J, Shago M, Morgenstern DA, Tabori U, Meyn S, Irwin MS, Malkin D, Shlien A

Nature cancer2023133 citationsOpen Access

DOI: 10.1038/s43018-022-00474-y PMID: 36585449

Trio RNA sequencing in a cohort of medically complex children.

Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ

American journal of human genetics202335 citationsOpen Access

DOI: 10.1016/j.ajhg.2023.03.006 PMID: 36990084

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C

Molecular genetics and metabolism2023

DOI: 10.1016/j.ymgme.2023.107715 PMID: 37907381

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Jilani A, Matviychuk D, Blaser S, Dyack S, Mathieu J, Prasad AN, Prasad C, Kyriakopoulou L, Mercimek-Andrews S

JIMD reports2019

DOI: 10.1002/jmd2.12057 PMID: 31741823

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

Amal Al Teneiji, Theodora U. J. Bruun, Sarah Sidky, Dawn Cordeiro, Ronald D. Cohn, Roberto Mendoza‐Londono, Mahendranath D. Moharir, Julian Raiman, Komudi Siriwardena, Lianna G. Kyriakopoulou, Saadet Mercimek‐Mahmutoglu

Molecular Genetics and Metabolism201766 citations

DOI: 10.1016/j.ymgme.2016.12.014 PMID: 28122681

Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children.

Teodoro-Morrison T, Kyriakopoulou L, Chen YK, Raizman JE, Bevilacqua V, Chan MK, Wan B, Yazdanpanah M, Schulze A, Adeli K

Clinical biochemistry201554 citations

DOI: 10.1016/j.clinbiochem.2015.05.005 PMID: 25977068

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P

Clinical chemistry201544 citationsOpen Access

DOI: 10.1373/clinchem.2014.235564 PMID: 25759465

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Mercimek-Mahmutoglu S, Sidky S, Hyland K, Patel J, Donner EJ, Logan W, Mendoza-Londono R, Moharir M, Raiman J, Schulze A, Siriwardena K, Yoon G, Kyriakopoulou L

Orphanet journal of rare diseases201529 citationsSenior authorOpen Access

DOI: 10.1186/s13023-015-0234-9 PMID: 25758715

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

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Lianna Kyriakopoulou

Research

Latest papers

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.

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Trio RNA sequencing in a cohort of medically complex children.

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children.

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Frequent collaborators

Roberto Mendoza-Londono

Andreas Schulze

Christian Marshall

Greg Costain

Adam Shlien

Gregory Costain

Mahendranath Moharir

Stephen Scherer

James Dowling

Michael Brudno

Khosrow Adeli

Michal Inbar-Feigenberg

Anita Villani

Grace Yoon

Johann Hitzler

Ronald Cohn

Robin Hayeems

Vijay Ramaswamy

Catherine Goudie

James Whitlock

Daniel Morgenstern

David Colantonio

Mohamed Abdelhaleem

Gino Somers

Panagiota Klentrou

Komudi Siriwardena

Jessie Cameron

Kathy Chun