AutismKB 2.0

View the literatures on the ASD-related de novo mutation


Paper ID Year First Author Cases Families de novo Mutaitons Title Pubmed ID
AutD0001 2011 O'Roak BJ 2021 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417
AutD0007 2012 Michaelson JJ 10565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. 23260136
AutD0006 2012 O'Roak BJ 2446 46 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955
AutD0005 2012 Iossifov I 34350 De novo gene disruptions in children on the autistic spectrum. 22542183
AutD0004 2012 Neale BM 175 175173 Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311
AutD0003 2012 O'Roak BJ 1703 209242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309
AutD0002 2012 Sanders SJ 238172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306
AutD0008 2013 Jiang YH 3239 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque 23849776
AutD00040 2014 Fromer M 94 De novo mutations in schizophrenia implicate synaptic networks. 24463507
AutD00039 2014 EuroEPINOMICS-RES Consorti 1 1 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651
AutD00014 2014 O'Roak BJ 3486 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk. 25418537
AutD00013 2014 Iossifov I 2508 1194 The contribution of de novo coding mutations to autism spectrum disorder. 25363768
AutD00012 2014 De Rubeis S 2270 1702 Synaptic, transcriptional and chromatin genes disrupted in autism 25363760
AutD00011 2014 Dong S 787 78742 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru 25284784
AutD00010 2014 Lee H 2 12 Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins w 24501278
AutD0009 2014 Tavassoli T 1 14 De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. 24650168
AutD00041 2015 Deciphering Developmental 15 15 Large-scale discovery of novel genetic causes of developmental disorders. 25533962
AutD00015 2015 Krumm N 2377 137377 Excess of rare, inherited truncating mutations in autism 25961944
AutD00016 2015 Moreno-Ramos OA 4 5 Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation 26352270
AutD00018 2016 Hashimoto R 30 38 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder. 26582266
AutD00017 2016 Turner TN 53 27 Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN 26749308
AutD00042 2016 Halvardson J 5 7 Mutations in HECW2 are associated with intellectual disability and epilepsy. 27334371
AutD00043 2016 Horvath GA 1 1 Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: 26647175
AutD00020 2016 Wang T 1543 104554 De novo genic mutations among a Chinese autism spectrum disorder cohort 27824329
AutD00019 2016 Yuen RK 200 301 Genome-wide characteristics of de novo mutations in autism. 27525107
AutD00035 2017 Trujillano D 5 5 Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 27848944
AutD00036 2017 Bramswig NC 7 14 Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndr 27848077
AutD00037 2017 Nilsson D 8 17 Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially 27862604
AutD00038 2017 Redin C 28 34 The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali 27841880
AutD00034 2017 Chen R 107 116128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut 28344757
AutD00033 2017 Bowling KM 18 18 Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332
AutD00032 2017 Saskin A 2392 23924 Prevalence of four Mendelian disorders associated with autism in 2392 affected families. 28250423
AutD00031 2017 Geisheker MR 36 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100
AutD00030 2017 Wen Z 120 2 Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation 28785396
AutD00029 2017 Cai T 1 1 Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intel 28891213
AutD00021 2017 Stessman HA 6342 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development 28191889
AutD00022 2017 C Yuen RK 1625 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. 28263302
AutD00023 2017 Li J 536 22 Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au 28831199
AutD00024 2018 Liu Y 3004 A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Stu 29754769
AutD00025 2018 Zhu W 1 2 Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual 29423971
AutD00026 2018 Kimura Y 1 1 Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms. 29381230
AutD00027 2018 Takata A 262 262322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di 29346770
AutD00028 2018 Zhao JJ 1 1 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276
AutD00044 2018 McDermott JH 2 2 The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum 29288087

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018