Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1110592106
P356DOI10.1186/S13229-018-0247-Z
P932PMC publication ID6293633
P698PubMed publication ID30564305

P50authorEvan E. EichlerQ5415373
Cenying LiuQ125194372
Xiangbin JiaQ125194531
Yazhe WangQ125194723
Rongjuan ZhaoQ125195098
Biyuan ChenQ125195860
Meiling YaoQ125195879
Ningxia ZhaoQ125195959
Guiqin DuanQ125195963
P2093author name stringYu Zhang
Lu Shen
Yun Li
Ying Li
Kun Xia
Zhengmao Hu
Qian Pan
Zhigao Long
Wenjing Zhao
Jing Peng
Lin Han
Xiaoyan Ke
Raphael A Bernier
Yanling Liu
Jingping Zhao
Ting Bai
Hui Guo
Wei Su
Jingjing Chen
Xiaogang Du
Lu Xia
Tianyun Wang
Bradley P Coe
Carl Baker
Xinyi Yang
Yidong Shen
Xiaobing Zou
Jieqiong Tan
Min Long
Jianjun Ou
Guanglei Xun
Nan Pang
Honghui Li
Hailun Ni
Huidan Wu
Lian Huang
P2860cites workDisruptive CHD8 mutations define a subtype of autism early in developmentQ24300432
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPQ24567998
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De novo mutations in epileptic encephalopathiesQ24621776
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Synaptic, transcriptional and chromatin genes disrupted in autismQ28250800
The contribution of de novo coding mutations to autism spectrum disorderQ28250812
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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersQ28279421
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathologyQ28655884
A framework for the interpretation of de novo mutation in human diseaseQ29031873
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsQ29614573
Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.Q33416708
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayQ33763087
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Autism traits in the RASopathies.Q34503769
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDQ35991718
Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum DisordersQ36246158
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disordersQ36362825
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variationQ36800445
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum DisordersQ36960018
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general populationQ37177974
De novo genic mutations among a Chinese autism spectrum disorder cohort.Q37408616
Progress toward treatments for synaptic defects in autismQ38112617
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years--Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012.Q38794500
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samplesQ38964419
Prevalence and architecture of de novo mutations in developmental disordersQ38991782
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorderQ41654153
Epidemiology of autism spectrum disorders in adults in the community in EnglandQ45837341
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Q46033466
NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse.Q48231673
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Q54505733
Diagnostic exome sequencing in persons with severe intellectual disabilityQ55670486
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectmolecular biologyQ7202
P304page(s)64
P577publication date2018-12-13
P1433published inMolecular AutismQ15716718
P1476titleInherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
P478volume9

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cites work (P2860)
Q92070226A de novo variant of CHD8 in a patient with autism spectrum disorder
Q92831842Characterization of intellectual disability and autism comorbidity through gene panel sequencing
Q91272542De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Q92891250Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Q92027368High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies
Q89820108Vitamin D Deficiency During Pregnancy and Autism Spectrum Disorders Development

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