Reza Asadollahi

Zurich, ZH, Switzerland

Last Updated: 09/26/2026

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Found 23 publications

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.

Journal: American journal of human genetics

Published: April 29, 2024

Cerebellar impairments in genetic models of autism spectrum disorders: A neurobiological perspective.

Cerebellar impairments in genetic models of autism spectrum disorders: A neurobiological perspective.

Journal: Progress in neurobiology

Published: April 11, 2024

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

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

Journal: Human molecular genetics

Published: November 14, 2022

Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in.

Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in.

Journal: Stem cell research

Published: July 21, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

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

Published: September 06, 2020

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

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

Published: May 18, 2020

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Journal: Molecular genetics & genomic medicine

Published: February 03, 2020

Applying Rogers' framework to evaluate public awareness and knowledge of medical genetics in a developing country.

Applying Rogers' framework to evaluate public awareness and knowledge of medical genetics in a developing country.

Journal: Journal of community genetics

Published: May 29, 2019

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

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

Published: November 27, 2018

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Journal: Molecular medicine (Cambridge, Mass.)

Published: October 29, 2018

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Journal: Scientific reports

Published: August 08, 2018

Showing 1-12 of 23

Last Updated: 09/26/2026