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Ivan Ivanovski

Wissenschaftliche Mitarbeiter

University of Zurich

Switzerland

Research Interests

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Professors in Switzerland Professors in Medical Science Medical Science professors in Switzerland

About

Ivan Ivanovski is an Assistant Professor at Universität Zürich, Switzerland. His research focuses on genetic syndromes and developmental disorders, as evidenced by his recent articles examining the genetic landscape of conditions such as Mowat-Wilson syndrome and novel pathogenic variants in related disorders. He has contributed to the understanding of clinical utilities in genetic sequencing and the phenotypic characterization of various pediatric conditions.

Articles (17)

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2026

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2021

Collaborators (25)

Ype Elgersma

Full professor

Erasmus MC

NETHERLANDS

Ivan Ivanovski

Research Interests

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Articles (17)

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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

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

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

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

Identification of the DNA methylation signature of Mowat-Wilson syndrome

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature

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.

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: A study of 53 patients and review of the literature

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.

Collaborators (25)

Ype Elgersma

Geeske van Woerden

Anne Comi

Christiane Zweier

Sunita Venkateswaran

lucio giordano

Heinrich Sticht

Nicolas Descostes

Anna Mª Cueto-González

Tzung-Chien Hsieh

Pedro A Sanchez-Lara

Duccio Maria Cordelli

Marie-Pierre Bousquet

Reza Asadollahi

Frederic Laumonnier

Edoardo Errichiello

Hubert Rehrauer

Elena María Cabello

Alexander Ritter

Elke Krueger

Daniel G Fuster

Igor Delvendahl

Anselm Horn

Antonio Vitobello

Anita Rauch

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