ArticleNature2024
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Open access · hybridAbstract read
In one paragraph
Article in Nature, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
69citing papers in PubMed, 3 pooled it
22.2field-weighted citation impact, top 1% 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
69 citing papers in PubMed, 3 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience.Advanced healthcare materials · 2026Pooled it
- Pooled it
- Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.Frontiers in public health · 2025Pooled it
- Tiered modelling of a CACNA1A D1634N mutation linked to ataxia, epilepsy and cognitive deficits.Brain : a journal of neurology · 2026Article
- Stem cell derived neural organoid approaches for neurological diseases.Neural regeneration research · 2026Article
- Article
- Safety and toxicity assessment of antisense oligonucleotides in brain-relevant human cellular models.Molecular therapy. Nucleic acids · 2026Review
- A Chinese infant with CACNA1C p.C1021R variant expands clinical phenotype of CACNA1C-related disorder.Molecular genetics and metabolism reports · 2026Article
- Induced pluripotent stem cells from discovery to translation.Nature medicine · 2026Review
- Article
- RNA-Based Therapeutics in Genetic Neurodevelopmental Disorders: Bridging Molecular Genetics and Precision Medicine.International journal of molecular sciences · 2026Review
- Tools and tactics for studying alternative splicing.Nature reviews. Genetics · 2026Review
- Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.European journal of human genetics : EJHG · 2026Review
- Review
- CRISPR screens in human neural organoids and assembloids.Nature protocols · 2026Review
- Advances and applications of brain organoids in central nervous system disorders: Bridging the gap from laboratory to clinic.Neural regeneration research · 2026Article
- Modular nucleic acid-based construct for delivery of immunostimulatory agonists and oncogene-silencing oligonucleotides in tumours.Nature biomedical engineering · 2026Article
- Cyanine-modified ssODNs enhance CRISPR-Cas9 HDR in stem cell embryo models via chromatin and chemical modulation.Nature communications · 2026Article
- Changing the Child: The Impact of Novel Treatments on the Identity of Children With Monogenic Neurodevelopmental Disorders.Bioethics · 2026Article
- Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.The EMBO journal · 2026Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
16 authors at 3 institutions in 1 country.
Xiaoyu Chen *Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0003-4009-8156
Fikri Birey *Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0003-2632-2764
Min-Yin LiDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0002-8102-632X
Omer RevahDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Rebecca LevyDepartment of Neurology, Division of Child Neurology, Stanford University, Stanford, CA, USA.
Mayuri Vijay TheteDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Noah ReisDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0002-7258-2463
Konstantin KaganovskyDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Massimo OnestoDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Noriaki SakaiDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Zuzana HudacovaDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Jin HaoDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0002-6685-2017
Xiangling MengDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.ORCID 0000-0002-3528-4037
Seiji NishinoDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
John HuguenardDepartment of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.
Sergiu P PașcaDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA. spasca@stanford.edu.ORCID 0000-0002-3216-3248
Neurosciences Institute · USStanford University · USEmory University · US
Funding
Training Program in Basic NeuroscienceT32MH020016 · NIMH · STANFORD UNIVERSITY · PI Justin L Gardner, Merritt C Maduke · 1997 to 2026
$16.2MRole of L-type Calcium Channels in Human Interneuron Migration and IntegrationR01MH115012 · NIMH · STANFORD UNIVERSITY · PI PASCA, SERGIU · 2018 to 2022
$2.8MChronic Axon Hypofunction in Maternal Immune Activation Models of Neurodevelopmental DisordersR01MH121075 · NIMH · STANFORD UNIVERSITY · PI HUGUENARD, JOHN R · 2020 to 2023
$1.9MInvestigating the role of TCF4 in human interneuron function and dysfunctionR00MH119319 · NIMH · EMORY UNIVERSITY · PI BIREY, FIKRI · 2022 to 2024
$747kUpgrade of the Stanford GE-Varian Experimental MRI Scanner to the Current Model MS10RR026917 · NCRR · STANFORD UNIVERSITY · PI MOSELEY, MICHAEL E · 2010 to 2010
$497kInvestigating the role of TCF4 in human interneuron function and dysfunctionK99MH119319 · NIMH · STANFORD UNIVERSITY · PI BIREY, FIKRI · 2019 to 2021
$203kNCRR NIH HHS S10 RR026917NIMH NIH HHS K99 MH119319NIMH NIH HHS R00 MH119319NIMH NIH HHS R01 MH115012NIMH NIH HHS R01 MH121075NIMH NIH HHS T32 MH020016
Abstract
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions
Indexed as
Autistic DisorderLong QT SyndromeOligonucleotides, AntisenseSyndactylyAlternative SplicingAnimalsCalciumCalcium Channels, L-TypeCell MovementDendritesExonsFemaleHumansInterneuronsMaleMiceCACNA1C protein, humanCalciumCalcium Channels, L-TypeOligonucleotides, Antisense
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.