Autism and autism-related research data and biospecimens
English
United States, Los Angeles
the Simons Foundation Autism Research Initiative
数据描述
SFARI Base is a centralized repository supported by the Simons Foundation Autism Research Initiative (SFARI) designed to store autism research data, including phenotypic, genetic, and imaging information, along with biospecimens from various cohorts. It provides researchers access to these resources through an online portal for conducting studies on autism and related neurodevelopmental disorders. Researchers can request datasets or biospecimens, submit recruitment applications via Research Match, and utilize the platform's tools to advance scientific discovery in this field.
base.sfari.org
IP: 3.167.212.61
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相关论文
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Nature
2026
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•Vol.651 No.8105 p.429-439
Human genetic variation influences all aspects of our biology, including the oral cavity1–3, through which nutrients and microbes enter the body. Yet it is largely unknown which human genetic variants shape a person’s oral microbiome and potentially promote its dysbiosis3–5. We characterized the ora...
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ISSN:0028-0836
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes
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•00 p.1-18
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2026
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Nature Communications
2018
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2025
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2026
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•00 p.1-11
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Nature Communications
2023
•2023/12/6
•Vol.14 No.1 p.1-18
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Nature Neuroscience
2021
•2021/1/11
•Vol.24 No.2 p.197-203
Although germline de novo copy number variants (CNVs) are known causes of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. In this study, we assessed the contribution of mCNVs to ASD by ascertaining mCNVs in genotype...
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Nature Communications
2026
•2026/3/9
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Translational Psychiatry
2022
•2022/6/13
•Vol.12 No.1 p.1-14
The complexity of autism’s phenotypic spectra is well-known, yet most genetic research uses case-control status as the target trait. It is undetermined if autistic symptom domain severity underlying this heterogeneity is heritable and pleiotropic with other psychiatric and behavior traits in the sam...
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Alexander S. F. Berry•Brenda M. Finucane•Scott M. Myers•Lauren K. Walsh•John M. Seibert等 8 人
Nature Communications
2024
•2024/10/15
•Vol.15 No.1 p.1-11
A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypothesis have so far failed to explain the large difference in ...
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Yeongjun Jang•Livia Tomasini•Taejeong Bae•Anna Szekely•Flora M. Vaccarino等 6 人
Nature Communications
2024
•2024/10/23
•Vol.15 No.1 p.1-8
Little is known about the origin of germ cells in humans. We previously leveraged post-zygotic mutations to reconstruct zygote-rooted cell lineage ancestry trees in a phenotypically normal woman, termed NC0. Here, by sequencing the genome of her children and their father, we analyze the transmission...
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ISSN:2041-1723
Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism
Wang Yiqin•Guo Xiaoxian•Hong Xiumei•Wang Guoying•Pearson Colleen等 10 人
Nature Communications
2022
•2022/7/1
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Mitochondria are essential for brain development. While previous studies linked dysfunctional mitochondria with autism spectrum disorder (ASD), the role of the mitochondrial genome (mtDNA) in ASD risk is largely unexplored. This study investigates the association of mtDNA heteroplasmies (co-existenc...
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ISSN:2041-1723
Genetic correlates of phenotypic heterogeneity in autism
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Nature Genetics
2022
•2022/6/2
•00 p.1-12
The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (nmax = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and...
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10.1038/S41588-022-01072-5
ISSN:1061-4036
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Nature Communications
2025
•2025/3/6
•Vol.16 No.1 p.1-11
The co-occurrence of autism and gastrointestinal distress is well-established, yet the molecular underpinnings remain unknown. The identification of high-confidence, large-effect autism genes offers the opportunity to identify convergent, underlying biology by studying these genes in the context of ...
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ISSN:2041-1723
Large-scale metagenomic analysis of oral microbiomes reveals markers for autism spectrum disorders
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Nature Communications
2024
•2024/11/11
•Vol.15 No.1 p.1-18
The link between the oral microbiome and neurodevelopmental disorders remains a compelling hypothesis, still requiring confirmation in large-scale datasets. Leveraging over 7000 whole-genome sequenced salivary samples from 2025 US families with children diagnosed with autism spectrum disorders (ASD)...
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10.1038/S41467-024-53934-7
ISSN:2041-1723
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Bin Yu•Shimeng Zhu•Linhu Xiao•Guodong Chen•Suixin Deng等 41 人
Molecular Psychiatry
2026
•2026/6/15
•00 p.1-15
Autism spectrum disorder (ASD) is a heterogeneous condition in which genetically defined subtypes offered insights into underlying biological mechanisms and potential targeted treatments. Here, we investigate the clinical and pathogenic significance of GIGYF2 variants in ASD through an integrated ap...
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10.1038/S41380-026-03681-6
ISSN:1359-4184
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Zhou Xueya•Feliciano Pamela•Shu Chang•Wang Tianyun•Astrovskaya Irina等 28 人
Nature Genetics
2022
•2022/8/18
•Vol.54 No.9 p.1305-1319
To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of 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), including fi...
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10.1038/S41588-022-01148-2
ISSN:1061-4036
Structural models of genome-wide covariance identify multiple common dimensions in autism
Lucía de Hoyos•Maria T. Barendse•Fenja Schlag•Marjolein M. J. van Donkelaar•Ellen Verhoef等 12 人
Nature Communications
2024
•2024/2/27
•Vol.15 No.1 p.1-15
Common genetic variation has been associated with multiple phenotypic features in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous phenotypic spectrum is limited. Here, we developed and implemented a structural equat...
Autism spectrum disordersBehavioural genetics
10.1038/S41467-024-46128-8
ISSN:2041-1723