Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.

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Title: Genetic Heterogeneity of Autism Spectrum Disorder: Identification of Five Novel Mutations (RIMS2, FOXG1, AUTS2, ZCCHC17, and SPTBN5) in Iranian Families via Whole-Exome and Whole-Genome Sequencing.
Authors: Mirahmadi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran., Kahani SM; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.; Department of Exomine, PardisGene Company, Tehran, Iran., Sharifi-Zarchi A; Department of Exomine, PardisGene Company, Tehran, Iran.; Department of Computer Engineering, Sharif University of Technology, Tehran, Iran., Firouzabadi SG; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Behjati F; Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. masoud.garshasbi@modares.ac.ir.; DeNA Laboratory, Department of Medical Genetics, Tehran, Iran. masoud.garshasbi@modares.ac.ir.
Source: Biochemical genetics [Biochem Genet] 2026 Jun; Vol. 64 (3), pp. 3867-3895. Date of Electronic Publication: 2025 Aug 16.
Publication Type: Journal Article
Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-4927
DOI:10.1007/s10528-025-11226-9