ArticleFrontiers in genetics2019
Novel Compound Heterozygous Mutations in the
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Pooled it
- Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.Neurogenetics · 2024Article
- Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.Journal of human genetics · 2024Article
- Case Report: Whole exome sequencing identifies compound heterozygous variants in theFrontiers in genetics · 2024Article
- Article
- Defective neurite elongation and branching in Nibp/Trappc9 deficient zebrafish and mice.International journal of biological sciences · 2023Article
- A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.BMC medical genomics · 2022Article
- Association between 19-bp Insertion/Deletion Polymorphism of Dopamine β-Hydroxylase and Autism Spectrum Disorder in Thai Patients.Medicina (Kaunas, Lithuania) · 2022Article
- Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.Journal of human genetics · 2022Article
- Trappc9 Deficiency Impairs the Plasticity of Stem Cells.International journal of molecular sciences · 2022Article
- Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.PLoS genetics · 2022Article
- Identification ofFrontiers in veterinary science · 2022Article
- Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.Molecular genetics & genomic medicine · 2021Article
- Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.Genes & genomics · 2021Article
- Novel Compound Heterozygous Mutation inGenes · 2021Article
- Screening forBioMed research international · 2021Article
- Trappc9 deficiency in mice impairs learning and memory by causing imbalance of dopamine D1 and D2 neurons.Science advances · 2020Article
- Emerging role of NIK/IKK2-binding protein (NIBP)/trafficking protein particle complex 9 (TRAPPC9) in nervous system diseases.Translational research : the journal of laboratory and clinical medicine · 2020Review
- Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity.PLoS genetics · 2020Article
- Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci. To date, several intellectual disability (ID) susceptibility genes have frequently been identified in ASD. Here, whole exome sequencing was carried out on a proband with ASD and identified compound heterozygous mutations of the
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Identifiers
What OpenQuestion holds
Registered trials
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.