ArticleScience advances2019
Disruptive variants of
Open access · goldAbstract read
In one paragraph
Article in Science advances, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
4.5field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
33 citing papers in PubMed, 45 citations in OpenAlex.
- Evidence supporting the role of GIGYF2 in synapse development and autism.Molecular psychiatry · 2026Article
- CSDE1 in tumour immunology: spatiotemporal translational reprogramming and immune microenvironment remodeling.Journal of translational medicine · 2026Review
- Loss of cold shock domain-containing protein E1 (CSDE1) function enhances mRNA stability of interleukin-6 and promotes malignant transformation in endometrial cancer cells.Cell communication and signaling : CCS · 2026Article
- CSDE1 Associates with TOM20 and Mitochondrial Protein-Encoding mRNAs in Sensory Neurons.Antioxidants (Basel, Switzerland) · 2026Article
- Transcriptome profile analysis of genes by RNA-sequencing in neonatal maternal separation rats with autistic-like behaviors.Translational pediatrics · 2026Article
- CSDE1 promotes viral immune evasion through RNA-dependent and phosphorylation-modulated liquid-liquid phase separation.Nature communications · 2026Article
- Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China.Frontiers in pediatrics · 2026Article
- Liquid-liquid phase separation couples MKRN2-mediated ubiquitination of CSDE1 with neurodevelopmental disorders.Frontiers in cellular neuroscience · 2026Article
- Single-cell transcriptome analysis reveals regulatory programs of prognosis-associated RNA binding proteins during LIHC development.Cancer cell international · 2025Article
- Cobalt-catalyzed reductive cross-coupling: a review.Molecular diversity · 2025Review
- Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy.Epilepsia · 2025Article
- Soil moisture and microbiome explain greenhouse gas exchange in global peatlands.Scientific reports · 2025Article
- Exon disruptive variants in Populus trichocarpa associated with wood properties exhibit distinct gene expression patterns.The plant genome · 2025Article
- CSDE1: a versatile regulator of gene expression in cancer.NAR cancer · 2024Article
- The RNA-binding protein CSDE1 promotes hematopoietic stem and progenitor cell generation via translational control of Wnt signaling.Development (Cambridge, England) · 2023Article
- Cold shock domain-containing protein E1 is a posttranscriptional regulator of the LDL receptor.Science translational medicine · 2022Article
- De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Science advances · 2022Article
- A Combined Proteomics and Metabolomics Profiling to Investigate the Genetic Heterogeneity of Autistic Children.Molecular neurobiology · 2022Article
- Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders.Journal of autism and developmental disorders · 2022Article
- NovelFrontiers in molecular neuroscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
73 authors at 20 institutions in 6 countries.
Hui GuoCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.ORCID 0000-0002-1570-2545
Ying LiCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.ORCID 0000-0002-2015-3560
Lu ShenCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.ORCID 0000-0002-7692-0247
Tianyun WangCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.ORCID 0000-0002-5179-087X
Xiangbin JiaCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Lijuan LiuInstitute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.
Tao XuDepartment of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.
Mengzhu OuInstitute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Huidan WuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Madelyn A GillentineDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Cenying LiuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Hailun NiCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Pengwei PengCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Rongjuan ZhaoCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yu ZhangKey Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.ORCID 0000-0001-6113-8706
Chanika PhornphutkulDivision of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI, USA.
Alexander P A StegmannDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Carlos E PradaDepartment of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.ORCID 0000-0003-3348-3531
Robert J HopkinDepartment of Pediatrics, University of Cincinnati College of Medicine, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.ORCID 0000-0003-0770-5516
Joseph T ShiehInstitute for Human Genetics and Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Kirsty McWalterGeneDx, Gaithersburg, MD, USA.ORCID 0000-0002-1654-9036
Kristin G MonaghanGeneDx, Gaithersburg, MD, USA.
Peter M van HasseltUniversity Medical Center Utrecht, Utrecht, Netherlands.
Koen van GassenUniversity Medical Center Utrecht, Utrecht, Netherlands.
Ting BaiCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Min LongCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Lin HanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yingting QuanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Meilin ChenCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yaowen ZhangCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Kuokuo LiCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Qiumeng ZhangCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jieqiong TanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Tengfei ZhuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yaning LiuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Nan PangDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.ORCID 0000-0002-9557-9451
Jing PengDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0003-1460-5169
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Mahshid AzamianDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-8543-8284
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Darius J AdamsGoryeb Children's Hospital, Atlantic Health System, Morristown, NJ, USA.ORCID 0000-0002-8723-260X
Malin KvarnungDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Anna LindstrandDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.ORCID 0000-0003-0806-5602
Ann NordgrenDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.ORCID 0000-0003-3285-4281
Jonathan PevsnerDepartment of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.ORCID 0000-0002-6328-0842
Ikeoluwa A Osei-OwusuDepartment of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.
Corrado RomanoOasi Research Institute-IRCCS, Troina, Italy.ORCID 0000-0003-1049-0683
Giuseppe CalabreseOasi Research Institute-IRCCS, Troina, Italy.ORCID 0000-0002-8846-4955
Ornella GalesiOasi Research Institute-IRCCS, Troina, Italy.ORCID 0000-0002-7877-938X
Jozef GeczSchool of Medicine and the Robinson Research Institute, University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.ORCID 0000-0002-7884-6861
Eric HaanAdult Genetics Unit, Royal Adelaide Hospital, and School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.ORCID 0000-0002-7310-5124
Judith RanellsDepartment of Pediatrics, University of South Florida, Tampa, FL, USA.ORCID 0000-0002-3682-1623
Melissa RacobaldoDepartment of Pediatrics, University of South Florida, Tampa, FL, USA.
Magnus NordenskjoldDepartment of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
Suneeta Madan-KhetarpalDivision of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Jessica SebastianDivision of Medical Genetics, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
Susie BallCentral Washington Genetics Program, Virginia Mason Memorial, Yakima, WA, USA.
Xiaobing ZouChildren Development Behavior Center of the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Jingping ZhaoMental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhengmao HuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-4177-709X
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0001-5664-7987
Bert B A de VriesDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
Raphael A BernierDepartment of Psychiatry, University of Washington, Seattle, WA, USA.
Zhi-Qing David XuDepartment of Neurobiology, Beijing Key Laboratory of Neural Regeneration and Repair, Beijing Laboratory of Brain Disorders (Ministry of Science and Technology), Beijing Institute of Brain Disorders, Capital Medical University, Beijing, China.
Honghui LiKey Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
Wei XieInstitute of Life Sciences, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, Jiangsu, China.
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, USA.ORCID 0000-0003-3015-3545
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-8246-4014
Kun XiaCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.ORCID 0000-0001-8090-6002
Central South University · CNBaylor College of Medicine · USKarolinska University Hospital · SEOasi Maria SS · ITSoutheast University · CNUniversity of Washington · USCapital Medical University · CNChildren's Hospital of Pittsburgh · USCincinnati Children's Hospital Medical Center · USKennedy Krieger Institute · USUniversity Medical Center Utrecht · NLUniversity of South Florida · USErasmus MC · NLGoryeb Children's Hospital · USHasbro Children's Hospital · USHoward Hughes Medical Institute · USLiuzhou Maternal and Child Health Hospital · CNMaastricht University · NLNational Eye Institute · USRadboud University Nijmegen · NL
Funding
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MTranslational Neuroscience CoreU54HD079123 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI FATEMI, S. ALI, SCHLAGGAR, BRADLEY L · 2014 to 2019
$7.9MNICHD NIH HHS U54 HD079123NIMH NIH HHS R01 MH101221
Abstract
RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely gene-disrupting variants in
Indexed as
Genetic Predisposition to DiseaseGenetic VariationAdolescentAnimalsAutistic DisorderChildChild, PreschoolDisease Models, AnimalDNA-Binding ProteinsFemaleGenetic Association StudiesGenetic LociHumansMaleMiceNeurogenesisCSDE1 protein, humanDNA-Binding ProteinsRNA-Binding Proteins
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