Marco Tartaglia

Internal Medicine

20 Watsessing Ave
Bloomfield, NJ 07003

Last Updated: 09/26/2026

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Found 445 publications

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Journal: Science immunology

Published: August 07, 2026

A matter of switch: how RAC1 variants drive distinct disorders.

A matter of switch: how RAC1 variants drive distinct disorders.

Journal: European journal of human genetics : EJHG

Published: May 12, 2026

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Journal: Nature genetics

Published: April 23, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Journal: International journal of molecular sciences

Published: January 28, 2026

Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.

Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.

Journal: HGG advances

Published: December 18, 2025

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Journal: Brain : a journal of neurology

Published: November 26, 2025

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Journal: Orphanet journal of rare diseases

Published: November 21, 2025

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Journal: Human genetics

Published: November 21, 2025

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Journal: Clinical genetics

Published: November 14, 2025

Showing 1-12 of 445

Last Updated: 09/26/2026