Guney Bademci

Assistant Professor

University of Miami School of Medicine

United States

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Guney Bademci is an Assistant Professor at the University of Miami School of Medicine in the United States. His research focuses on neurodevelopmental disorders, genetic syndromes, and autoimmunity, as evidenced by his recent publications on topics such as RBBP5-related disorders, congenital titinopathy, and UNC93B1 variants. Bademci actively contributes to the understanding of complex genetic conditions through collaborative approaches in rare disease diagnosis.

Articles (10)

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2024

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2024

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2024

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2024

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2024

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2024

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2024

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2024

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2024

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2024

Collaborators (4)

Irman Forghani

UNITED STATES

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serenella venanzi

Istituto Superiore di Sanità

ITALY

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Matthew Moulton

Assistant Professor

Texas A&M University

UNITED STATES

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Mustafa Tekin

University of Miami

UNITED STATES

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Guney Bademci

Research Interests

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Articles (10)

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.

Collaborators (4)

Irman Forghani

serenella venanzi

Matthew Moulton

Mustafa Tekin

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