Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

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第一作者： Mónica,Lopes-Marques

第一单位： CIIMAR-Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Porto, Portugal.

作者： Mónica,Lopes-Marques ^[1] ; Matthew,Mort ^[2] ; João,Carneiro ^[1] ; António,Azevedo ^[3] ; Andreia P,Amaro ^[4] ; David N,Cooper ^[2] ; Luísa,Azevedo ^[5]

作者单位： CIIMAR-Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Porto, Portugal. ^[1] Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK. ^[2] CHUdSA-Centro Hospitalar Universitário de Santo António, Porto, Portugal.;UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.;ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal. ^[3] UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.;ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal. ^[4] UMIB-Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal. lazevedo@icbas.up.pt.;ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal. lazevedo@icbas.up.pt. ^[5]

关键词 Autism spectrum disorder De novo mutations (DNMs)Development Genetic disease Neurodevelopmental disorders Psychiatric disorders

主题词人类(Humans);突变(Mutation);双亲(Parents);生殖细胞(Germ Cells)

DOI 10.1186/s40246-024-00587-8

PMID 38395944

发布时间 2024-11-07

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