Ivan Ivanovski

Reggio Nell'emilia, Italy

Last Updated: 09/26/2026

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Found 48 publications

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

Journal: HGG advances
Published: November 26, 2025

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

Journal: The Journal of clinical investigation
Published: June 09, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: medRxiv : the preprint server for health sciences
Published: April 16, 2025

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Journal: American journal of human genetics
Published: April 01, 2025

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A
Published: December 20, 2024

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP.

Journal: Neurogenetics
Published: October 31, 2024

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications
Published: February 06, 2024

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: medRxiv : the preprint server for health sciences
Published: January 31, 2024

DPF2-related Coffin-Siris syndrome type 7 in two generations.

DPF2-related Coffin-Siris syndrome type 7 in two generations.

Journal: European journal of medical genetics
Published: December 11, 2023

Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.

Further evidence for an attenuated phenotype of in-frame DMD deletions affecting the central rod domain of dystrophin around exon 48.

Journal: American journal of medical genetics. Part A
Published: December 08, 2023

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Journal: European journal of human genetics : EJHG
Published: October 24, 2023

A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.

A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.

Journal: American journal of medical genetics. Part A
Published: January 25, 2023
Showing 1-12 of 48

Last Updated: 09/26/2026