Tayfun S. Ozcelik

A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor.

Journal: Frontiers in neurology

Published: January 26, 2026

Escape From X-Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation.

Journal: Annals of the New York Academy of Sciences

Published: January 21, 2026

Prediction of human missense variant effects from functional evidence.

Journal: Research square

Published: November 19, 2025

Prediction of human missense variant effects from functional evidence.

Journal: Nature genetics

Published: September 04, 2025

Human LY9 governs CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis.

Journal: Science immunology

Published: May 30, 2025

Inherited burden for disease predisposition in diverse populations.

Journal: Research square

Published: March 31, 2025

Inherited burden for disease predisposition in diverse populations.

Journal: NPJ genomic medicine

Published: March 14, 2025

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 11, 2025

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 11, 2025

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Journal: The Journal of experimental medicine

Published: August 09, 2024

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Journal: The Journal of experimental medicine

Published: April 22, 2024

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Journal: Genome medicine

Published: January 06, 2024

A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor.

A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor.

Escape From X-Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation.

Escape From X-Chromosome Inactivation Enables Survival in a Male With an Unbalanced X;19 Translocation.

Prediction of human missense variant effects from functional evidence.

Prediction of human missense variant effects from functional evidence.

Prediction of human missense variant effects from functional evidence.

Prediction of human missense variant effects from functional evidence.

Human LY9 governs CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis.

Human LY9 governs CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis.

Inherited burden for disease predisposition in diverse populations.

Inherited burden for disease predisposition in diverse populations.

Inherited burden for disease predisposition in diverse populations.

Inherited burden for disease predisposition in diverse populations.

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

AAVC: An automated framework for high-accuracy ACMG-based variant classification.

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor.

A homozygous missense variant, p.Ser166Leu in the PRPF40B gene, in a 7.7 Mb region of homozygosity in a consanguineous Turkish family with essential tremor.