Tugce B. Balci - Publications

Delineating the epilepsy phenotype of ring chromosome 20: A systematic literature review.

Journal: Epilepsy research

Published: March 27, 2026

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.

Journal: BMJ open

Published: March 27, 2026

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

Journal: Journal of genetic counseling

Published: July 11, 2025

Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: April 13, 2025

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.

Journal: Clinical genetics

Published: March 12, 2025

Overlap Diagnostic Odyssey and Full Mouth Rehabilitation of a Juvenile Patient With IFIH1-Related Disorder: A Case of Aicardi-Goutières and Singleton Merten Syndromes Overlap.

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: December 09, 2024

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics

Published: August 14, 2024

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.

Journal: Journal of medical genetics

Published: July 03, 2024

Glutamine missense suppressor transfer RNAs inhibit polyglutamine aggregation.

Journal: Molecular therapy. Nucleic acids

Published: June 21, 2024

From Alpha-Thalassemia Trait to NPRL3-Related Epilepsy: A Genomic Diagnostic Odyssey.

Journal: Genes

Published: May 30, 2024

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

Journal: American journal of human genetics

Published: February 27, 2024