Tugce Balci

Assistant Professor

Western University

Canada

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Research Interests

Neurology

50%

Neuropsychology

30%

Medical Science

100%

Rare Disease

90%

Neurodevelopmental Disorders

40%

Neurological Disorder

40%

Exome Sequencing

20%

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Articles13

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

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Year:

2024

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

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Year:

2024

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

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Year:

2024

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.

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Year:

2023

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

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Year:

2023

SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis

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Year:

2023

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.

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Year:

2023

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.

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Year:

2022

Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability

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Year:

2022

Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors

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Year:

2022

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

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Year:

2022

Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience

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Year:

2021

Tatton‐Brown‐Rahman syndrome: Six individuals with novel features

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Year:

2020

Collaborators13

Frank Kooy

Professor

University of Antwerp

BELGIUM

Martin Janz

Max Delbrück Centrum für Molekulare Medizin Berlin Buch

GERMANY

Maha Saleh

CANADA

María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

SPAIN

Felix Boschann

GERMANY

M. E. Suzanne Lewis

CANADA

B. Callewaert

BELGIUM

Victoria Siu

University of Western Ontario

CANADA

Danita Velasco

University of Arkansas for Medical Sciences Department of Pediatrics

UNITED STATES

Eline van der Sluijs

Leiden University Medical Center

NETHERLANDS

Jozef Gecz

AUSTRALIA

Elsebet Østergaard

Associate Professor, PhD

University of Copenhagen

DENMARK

Maryam Nabavi Nouri

Assistant Professor

Western University

CANADA

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