Autism spectrum disorder

The Lancet, Год журнала: 2018, Номер 392(10146), С. 508 - 520

Опубликована: Авг. 1, 2018

Язык: Английский

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Detection of unamplified target genes via CRISPR–Cas9 immobilized on a graphene field-effect transistor

Nature Biomedical Engineering, Год журнала: 2019, Номер 3(6), С. 427 - 437

Опубликована: Март 25, 2019

Язык: Английский

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Dendritic structural plasticity and neuropsychiatric disease

Nature reviews. Neuroscience, Год журнала: 2018, Номер 19(4), С. 215 - 234

Опубликована: Март 16, 2018

Язык: Английский

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Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

Cell, Год журнала: 2019, Номер 178(4), С. 850 - 866.e26

Опубликована: Авг. 1, 2019

Язык: Английский

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Genomic Patterns of De Novo Mutation in Simplex Autism

Cell, Год журнала: 2017, Номер 171(3), С. 710 - 722.e12

Опубликована: Сен. 29, 2017

Язык: Английский

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Autism genes converge on asynchronous development of shared neuron classes

Nature, Год журнала: 2022, Номер 602(7896), С. 268 - 273

Опубликована: Фев. 2, 2022

Язык: Английский

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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

Nature Genetics, Год журнала: 2018, Номер 51(1), С. 106 - 116

Опубликована: Дек. 7, 2018

Язык: Английский

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Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk

Nature Genetics, Год журнала: 2019, Номер 51(6), С. 973 - 980

Опубликована: Май 27, 2019

Язык: Английский

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Nature Genetics, Год журнала: 2022, Номер 54(9), С. 1305 - 1319

Опубликована: Авг. 18, 2022

Abstract To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance ( P < 2.5 × 10 −6 ), five NAV3 , ITSN1 MARK2 SCAF1 HNRNPUL2 ). The association is primarily driven loss-of-function (LoF) variants, an estimated relative 4, consistent moderate effect. Autistic individuals LoF four moderate-risk ; n = 95) have less cognitive impairment than 129 autistic highly penetrant CHD8, SCN2A, ADNP, FOXP1 SHANK3 ) (59% vs 88%, 1.9 Power calculations suggest that much larger numbers are needed to identify additional genes.

Язык: Английский

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Cross Talk: The Microbiota and Neurodevelopmental Disorders

Frontiers in Neuroscience, Год журнала: 2017, Номер 11

Опубликована: Сен. 15, 2017

Humans evolved within a microbial ecosystem resulting in an interlinked physiology. The gut microbiota can signal to the brain via immune system, vagus nerve or other host-microbe interactions facilitated by hormones, regulation of tryptophan metabolism and metabolites such as short chain fatty acids (SCFA), influence development, function behaviour. Emerging evidence suggests that may play role shaping cognitive networks encompassing emotional social domains neurodevelopmental disorders. Drawing upon preclinical clinical evidence, we review potential origins development related Autism spectrum disorders (ASD) Schizophrenia. Small preliminary studies have demonstrated alterations both ASD Schizophrenia compared healthy controls. However, await further mechanistic insights, together with large scale longitudinal trials, encompass systems level dimensional approach, investigate whether promising pre-clinical initial findings lead relevance.

Язык: Английский

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