Publications by authors named "Tugce B Balci"

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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, Tugce B Balci

Clin Genet· January 2026

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Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.
Tugce B Balci, Laila C Schenkel, Cassandra Rastin, Kevin Jones, Lysa Boissé Lomax

Can J Neurol Sci· April 2025

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Glutamine missense suppressor transfer RNAs inhibit polyglutamine aggregation.
Rasangi Tennakoon, Teija M I Bily, Farah Hasan, Sunidhi Syal, Aaron Voigt, Tugce B Balci

Mol Ther Nucleic Acids· March 2025

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey, Raissa Relator, Tugce B Balci

Am J Hum Genet· February 2025

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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.
Sadegheh Haghshenas, Karim Karimi, Roger E Stevenson, Michael A Levy, Raissa Relator, Tugce B Balci

Am J Hum Genet· August 2024

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From Alpha-Thalassemia Trait to -Related Epilepsy: A Genomic Diagnostic Odyssey.
Maryam Nabavi Nouri, Lama Alandijani, Kalene van Engelen, Soumitra Tole, Emilie Lalonde, Tugce B Balci

Genes (Basel)· June 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, Tugce B Balci

Genet Med· February 2024

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Tugce B Balci

J Clin Invest· January 2024

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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Tugce B Balci

Eur J Hum Genet· August 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert

Am J Med Genet A· July 2023

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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Taila Hartley, Élisabeth Soubry, Meryl Acker, Matthew Osmond, Madeline Couse, Tugce B Balci

Clin Genet· March 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, Tugce B Balci

Hum Mutat· November 2022

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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Tugce B Balci

Genet Med· November 2021

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Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Caitlin A Chang, Renee Perrier, Kyle C Kurek, Juvianee Estrada-Veras, Anna Lehman, Tugce B Balci

Am J Med Genet A· September 2021

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Fuad Chowdhury, Lei Wang, Mohammed Al-Raqad, David J Amor, Alice Baxová, Tugce B Balci

Genet Med· July 2021

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Bekim Sadikovic, Michael A Levy, Jennifer Kerkhof, Erfan Aref-Eshghi, Laila Schenkel, Tugce B Balci

Genet Med· June 2021

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Groupe DI France, Mouna Barat-Houari, Tugce B Balci

Am J Hum Genet· June 2021

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Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
So Lee, Natalya Karp, Eugenio Zapata-Aldana, Bekim Sadikovic, Ping Yang, Tugce B Balci

Can J Neurol Sci· March 2021

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Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Willie H Chang, Pouria Mashouri, Alexander X Lozano, Brittney Johnstone, Mia Husić, Tugce B Balci

Genet Med· August 2020

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Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Willie H Chang, Pouria Mashouri, Alexander X Lozano, Brittney Johnstone, Mia Husić, Tugce B Balci

Genet Med· August 2020

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Tatton-Brown-Rahman syndrome: Six individuals with novel features.
Tugce B Balci, Alana Strong, Jennifer M Kalish, Elaine Zackai, John M Maris

Am J Med Genet A· April 2020

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, , Mouna Barat-Houari, Tugce B Balci

Am J Hum Genet· March 2020

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The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
Taila Hartley, Tuğçe B Balcı, Samantha K Rojas, Alison Eaton, Care Rare Canada

Am J Med Genet C Semin Med Genet· December 2018

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Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci

Hum Mutat· May 2018

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Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
Tugce B Balci, Jorge Davila, Denice Lewis, Addo Boafo, Erick Sell

Am J Med Genet B Neuropsychiatr Genet· January 2018

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