Take a look at our scientific publications and posters.
Scientific articles
Recently published articles
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The diagnostic accuracy of clinical manifestations in identifying people with tuberous sclerosis complex
Li J, El Haffaf Z, Lattouf JB, Major P, Keezer MR
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Blood biomarkers to identify renal angiomyolipomas in people with Tuberous Sclerosis Complex.
Balthazard R, Li Jimmy, Loubert F, Drouin-Engler RM, Boisclair M, Coquelet P, Rebillard RM, Arbour N, Major P, House A, Larochelle C, Keezer MR
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Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
Clara Schott , Mohammad Alajmi, Mohammad Bukhari , Sydney Relouw, Jian Wang, …
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Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma-like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex
Katherina Baranova, Jacob A Houpt, Deaglan Arnold, …
The diagnostic accuracy of clinical manifestations in identifying people with tuberous sclerosis complex
Li J, El Haffaf Z, Lattouf JB, Major P, Keezer MR
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
Clara Schott , Mohammad Alajmi, Mohammad Bukhari , Sydney Relouw, Jian Wang, Adam D. McIntyre, Cadence Baker, Samantha Colaiacovo, Carla Campagnolo, Gabriela Almada Offerni, Peter G. Blake, Micheal Chiu, Andrea Cowan, Amit X. Garg, Lakshman Gunaratnam, Andrew A. House, Shih-Han Susan Huang, Hariharan Iyer, Arsh K. Jain, Anthony M. Jevnikar, John Johnson, Khaled Lotfy, Louise Moist, Faisal Rehman, Pavel S. Roshanov, Nabil Sultan, Matthew A. Weir, Pari Basharat, Anita Florendo-Cumbermack, Tayyab Khan, Jenny Thain, Kendrah Kidd, Stanislav Kmoch, Anthony J. Bleyer, Jaspreet Bhangu, Robert A. Hegele and Dervla M. Connaughton
Distinct peripheral blood pro-inflammatory profile associated with tuberous sclerosis complex and epilepsy
Balthazard R, Drouin-Engler RM, Bertrand S, Zine-Eddine F, Li Jimmy, Tastet O, Daigneault A, Mamane VH, Ortega-Delgado GG, Sreng Flores AM, Kaufmann D, Major P, House A, Létourneau-Guillon L, Arbour N, Keezer MR, Larochelle C
Blood biomarkers to identify renal angiomyolipomas in people with Tuberous Sclerosis Complex.
Balthazard R, Li Jimmy, Loubert F, Drouin-Engler RM, Boisclair M, Coquelet P, Rebillard RM, Arbour N, Major P, House A, Larochelle C, Keezer MR
Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma-like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex
Katherina Baranova, Jacob A Houpt, Deaglan Arnold, Andrew A House, Laura Lockau, Lindsay Ninivirta, Stephen Pautler, Haiying Chen, Madeleine Moussa, Rola Saleeb, Jose A Gomez, Asli Yilmaz, Farshid Siadat, Adrian Box, Douglas J Mahoney, Franz J Zemp, Manal Gabril, Kiril Trpkov
Under-recognized neurocognitive deficits in adults and adolescents with tuberous sclerosis complex
Boisclair M, Blondeau LA, Bouchard F, Drouin Engler RM, Li J, Bertrand S, Zine-Eddine F, Guillon-Létourneau L, Larochelle C, Major P, Boucher O, Keezer MR
2025 ARTICLES
PRE 2025 ARTICLES
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
Loubert F, House A, Larochelle C, Major P, Keezer MR
Increased frequency of pro-inflammatory CD4 T cells and pathological levels of serum neurofilament light chain in adult drug-resistant epilepsy
Ouédraogo O, Rébillard RM, Jamann H, Mamane VH, Clénet ML, Daigneault A, Lahav B, Uphaus T, Bittner S, Zipp F, Bérubé A, Lapalme-Rémis S, Cossette P, Nguyen DK, Arbour N, Keezer MR, Larochelle C
Microscopic Kidney Disease in Tuberous Sclerosis Complex and Treatment With mTOR Inhibition
Kronick J, Gabril MY, House AA
Adults with Tuberous Sclerosis Complex: a distinct patient population
Bachour K, House A, Andrade DM, Connolly M, Debicki DB, Desbiens R, Fantaneanu TA, Kyriakopoulos P, Lattouf JB, Suller Marti A, Teixeira Marques P, Keezer MR
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada
Schott C, Arnaldi M, Baker C, Wang J, McIntyre AD, Colaiacovo S, Relouw S, Offerni GA, Campagnolo C, Van Nynatten LR, Pourtousi A, Drago-Catalfo A, Lebedeva V, Chiu M, Cowan A, Filler G, Gunaratnam L, House AA, Huang S, Iyer H, Jain AK, Jevnikar AM, Lotfy K, Moist L, Rehman F, Roshanov PS, Sharma AP, Weir MA, Kidd K, Bleyer AJ, Hegele RA, Connaughton DM.
Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a TSC2 Variant in Renal Tissue
Ikeda KM, House AA, Connaughton DM, Pautler SE, Siu VM, Jones ML
Articles in preparation
Advanced Quantitative MRI techniques may be used to differentiate SEEG-confirmed epileptogenic and non-epileptogenic tubers in TSC: a case report
Hannah R Bernstein, Aya Cherkaoui, Jakob Boulanger, Sami Obaid, Dang K Nguyen, Alain Bouthilier, Andrew House, Catherine Larochelle, Philippe Major, Maryam Nouri, Lauren Sham, Mark Keezer, David A Rudko, on behalf of the CaTS research group.
Conference posters
Brain tuber volume and neuroinflammatory biomarkers are associated with cognitive performance and epilepsy severity in Tuberous Sclerosis Complex
Jakob Boulanger, Renaud Balthazard, Laura Panti, Hannah Bernstein, David A. Rudko, Maryam Nabavi Nouri, Lauren Sham, Andrew A. House, Philippe Major, Laurent Létourneau-Guillon, Catherine Larochelle, Mark R. Keezer MD, on behalf of the CaTS research group.
Canadian League Against Epilepsy Annual Meeting
October 2026
Diffuse microstructural abnormalities in cortical tubers are associated with epilepsy status in tuberous sclerosis complex: a multiparametric MRI study
Hannah Bernstein, Jakob Boulanger, Andrew House, Catherine Larochelle, Philippe Major, Maryam Nouri, Lauren Sham, David Rudko, Mark Keezer, on behalf of the CaTS research group.
Canadian League Against Epilepsy Annual Meeting
October 2026
Advanced Quantitative MRI for Evaluating Epileptogenic Tubers in Tuberous Sclerosis Complex: an SEEG-Informed Case Report
Hannah Bernstein, Aya Cherkaoui, Jakob Boulanger, Andrew House, Catherine Larochelle, Philippe Major, Maryam Nouri, Lauren Sham, David Rudko, Mark Keezer, on behalf of the CaTS research group.
Canadian League Against Epilepsy Annual Meeting
October 2026
Tuberous sclerosis complex and epilepsy are associated with a pro-inflammatory peripheral immunophenotype and with markers of CNS inflammation and injury
Balthazard R, Drouin-Engler RM, Tastet O, Bouamoucha R, Klement W, Daigneault A, Maria A, Delgado G, Arbour N, Kaufmann D, Keezer M, Larochelle C
International Society of Neuroimmunology annual meeting
August 2023
Immunophenotyping of peripheral blood mononuclear cells in tuberous sclerosis complex [P622]
Balthazard R, Drouin-Engler RM, Klement W, Daigneault A, Kaufmann D, Keezer M, Larochelle C
American Association of Immunology annual meeting
May 2023
Immunophenotyping of peripheral blood mononuclear cells in tuberous sclerosis complex
Balthazard R, Drouin-Engler RM, Klement W, Daigneault A, Keezer M, Larochelle C
Americas School of Neuroimmunology annual meeting
July 2022
The Diagnostic accuracy of clinical manifestations in identifying people with Tuberous Sclerosis Complex
Jimmy Li, Zaki El Haffaf , Jean-Baptiste Lattouf, Philippe Major, and Mark R. Keezer
Canadian League Against Epilepsy Annual Meeting
October 2024
Under-recognized neurocognitive deficits in adults and adolescents with tuberous sclerosis complex
Boisclair M, Blondeau LA, Bouchard F, Drouin Engler RM, Li J, Bertrand S, Zine-Eddine F, Guillon-Létourneau L, Larochelle C, Major P, Boucher O, Keezer MR
Canadian League Against Epilepsy Annual Meeting
October 2024
Adults with Tuberous Sclerosis Complex: a distinct patient population
Bachour K, House A, Suller Marti A, Debicki D, Andrade DM, Teixeira Marques P, Fantaneanu TA, Kyriakopoulos P, Boisse Lomax L, Connolly M, Desbiens R, Shapiro M, Lattouf JB, Keezer MR
American Epilepsy Society annual meeting
December 2020