Publications by authors named "Victoria Siu"

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Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence, Noémie Villeneuve-Cloutier, Christine M Armour, Victoria M Siu

Clin Genet· January 2026

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Mainstreaming of clinical genetic testing: A conceptual framework.
Michael P Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu, Linlea Armstrong, Victoria Mok Siu

Genet Med· August 2025

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Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
Yousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio, Petronel Tuluc, Ann-Sophie Höing, Victoria M Siu

PLoS Genet· August 2025

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Transfer RNA and small molecule therapeutics for aminoacyl-tRNA synthetase diseases.
Tristan N Samuels, Fanqi Wu, Maria Mahmood, Wajd A Abuzaid, Nancy Sun, Victoria M Siu

FEBS J· June 2025

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Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.
Sarah D P Wilhelm, Angelica A Moresco, Alberto D Rivero, Victoria Mok Siu, Ilka U Heinemann

IUBMB Life· December 2024

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Genesis and genetics of a miracle.
Victoria Mok Siu

Am J Med Genet C Semin Med Genet· November 2024

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Circles.
Victoria Mok Siu, Jennifer Michelle Siu

Am J Med Genet C Semin Med Genet· November 2024

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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Thoa Ha, Angela Morgan, Meghan N Bartos, Katelyn Beatty, Benjamin Cogné, Victoria Mok Siu

Am J Med Genet A· July 2024

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A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.
Abdulrahman Al Ghamdi, Jessica Willett Pachul, Azhar Al Shaqaq, Meghan Fraser, Abby Watts-Dickens, Victoria Mok Siu

Genes (Basel)· July 2024

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Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with -related kyphoscoliotic Ehlers-Danlos syndrome.
Apoorva Bhandari, Victoria Siu, Audra A Duncan

J Vasc Surg Cases Innov Tech· June 2024

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Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.
Gurnoor Lail, Victoria M Siu, Andrew Leung

Neurology· April 2024

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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.
Taila Hartley, Deborah Marshall, Meryl Acker, Katharine Fooks, Meredith K Gillespie, Victoria Mok Siu

Genet Med· February 2024

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Victoria Mok Siu

Genet Med· January 2024

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Victoria Mok Siu

Brain· August 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Victoria Siu

Am J Med Genet A· August 2023

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Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.
Talib Al Harthy, Samantha Colaiacovo, Robert J Gratton, Kevin Coughlin, Victoria Mok Siu

Clin Case Rep· August 2023

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Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.
Yi Qiu, Rosan Kenana, Aruun Beharry, Sarah D P Wilhelm, Sung Yuan Hsu, Victoria M Siu

Hum Mol Genet· February 2023

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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Victoria Siu

Hum Mutat· November 2022

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Clinical Conundrum: Polyhydramnios as a Marker for a Fetal Genetic Syndrome in the Canadian Old Order Mennonite Population.
Janine Hutson, Victoria Mok Siu, C Anthony Rupar

J Obstet Gynaecol Can· July 2022

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Raisonnement clinique : L'hydramnios comme marqueur d'un syndrome génétique fœtal dans la population des mennonites du Vieil Ordre au Canada.
Janine Hutson, Victoria Mok Siu, C Anthony Rupar

J Obstet Gynaecol Can· July 2022

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Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report.
Jagraj S Brar, Rahul Verma, Mohammed Al-Omari, Victoria M Siu, Andrea V Andrade

Neuropediatrics· June 2022

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Corrigendum: Moyamoya Syndrome in an Infant with Aicardi-Goutières and Williams Syndromes: A Case Report.
Jagraj S Brar, Rahul Verma, Mohammed Al-Omari, Victoria M Siu, Andrea V Andrade

Neuropediatrics· June 2022

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Victoria Siu

HGG Adv· January 2022

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Lend Me a Hand: A Value-Based Care Case Study on Pan Plexopathy of Unknown Origin.
Victoria J Siu, Thomas Varkey, Umer N Khan, Jack B Ding, Saurin Gandhi

Cureus· December 2021

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Potential Pitfalls in Pre-implantation Genetic Diagnosis in a Patient with Tuberous Sclerosis and Isolated Mosaicism for a Variant in Renal Tissue.
Kristin M Ikeda, Andrew A House, Dervla M Connaughton, Stephen E Pautler, Victoria Mok Siu

Mol Syndromol· June 2021

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