Reza Asadollahi

University of Zurich — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

20h-index1.4kcitations41works2.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(9), Genetics and Neurodevelopmental Disorders(9), Genomics and Rare Diseases(8), Congenital heart defects research(5), Epigenetics and DNA Methylation(3)

Publications41 total

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Nature Genetics·2025· 1 citedOpen Access
Molecular engines driving biogenesis, trafficking and release of exosomes: SNARE proteins
Extracellular Vesicle·2025· 1 citedOpen Access
Cerebellar impairments in genetic models of autism spectrum disorders: A neurobiological perspective
Progress in Neurobiology·2024· 2 citedOpen Access
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
The American Journal of Human Genetics·2024· 4 citedOpen Access
Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons
Human Molecular Genetics·2023· 29 citedOpen Access
Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in
Stem Cell Research·2021· 1 citedOpen Access
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genetics in Medicine·2021· 80 citedOpen Access
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Genetics in Medicine·2020· 58 citedOpen Access
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
2020· 9 citedOpen Access
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in <i>ATM</i> (ataxia–telangiectasia mutated gene)
Molecular Genetics & Genomic Medicine·2020· 9 citedOpen Access
Applying Rogers’ framework to evaluate public awareness and knowledge of medical genetics in a developing country
Journal of Community Genetics·2020· 1 citedOpen Access
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Genetics in Medicine·2019· 82 citedOpen Access
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Molecular Medicine·2019· 67 citedOpen Access
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
European Journal of Human Genetics·2018· 71 citedOpen Access
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Scientific Reports·2018· 82 citedOpen Access
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Authors
2018· 1 citedOpen Access
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
The American Journal of Human Genetics·2018· 51 citedOpen Access
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
European Journal of Human Genetics·2018· 35 citedOpen Access
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
European Journal of Medical Genetics·2017· 48 citedOpen Access
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders
Molecular Syndromology·2017· 8 citedOpen Access
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Frequent Co-authors

Anita Rauch(20), Katharina Steindl(11), Beatrice Oneda(10), Pascal Joset(9), Heinrich Sticht(8), Alessandra Baumer(8), Paranchai Boonsawat(8), Silvia Azzarello‐Burri(7), André Reis(7), Markus Zweier(7), Xiao Yan Zhong(5), Rosa Baldinger(5), Barbara Plecko(5), Cornelia Kraus(5), Dunja Niedrist(5), Anaïs Begemann(5), Masoud Saghafinia(5), Wolfgang Holzgreve(4), Deborah Bartholdi(4), Arif B. Ekici(4)