ArticleNeurology. Genetics2021
Recessive
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 38% 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
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
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- Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.Clinical genetics · 2026Article
- Correlation between selenium levels and selenoproteins expression in idiopathic generalized epilepsy: a study from Karachi.BMC neurology · 2025Article
- Article
- Identification of a novel intronic variant in COL4A2 gene associated with fetal severe cerebral encephalomalacia and subdural hemorrhage.BMC medical genomics · 2024Article
- Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- Erratum: Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy.Neurology. Genetics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 6 institutions in 2 countries.
Somayeh BakhtiariPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Abbas TafakhoriPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Sheng Chih JinPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Brandon S GuidaPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Elham AlehabibPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Saghar FirouzbadiPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Kaya BilguvarPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Michael C FaheyPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Hossein DarvishPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Michael C KruerPediatric Movement Disorders Program (S.B., B.S.G., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ; Departments of Child Health (S.B., B.S.G., M.C.K.), Neurology, Genetics, and Cellular & Molecular Medicine, University of Arizona College of Medicine Phoenix, Phoenix, AZ; Iranian Center of Neurological Research (A.T., H.D.), Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran; Department of Genetics (S.C.J.), Washington University School of Medicine, St. Louis, MO; Student Research Committee (E.A.), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Genetics Research Center (S.F.), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Department of Genetics (K.B.), Yale University, New Haven, CT; and Department of Paediatrics (M.C.F.), Monash University, Melbourne, Victoria, Australia.
Tehran University of Medical Sciences · IRUniversity of Social Welfare and Rehabilitation Sciences · IRWashington University in St. Louis · USYale University · USBarrow Neurological Institute · USPhoenix Children's Hospital · US
Funding
Genomic Insights into the Neurobiology of Cerebral PalsyR01NS106298 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2019 to 2023
$3.7MIntegrative Genomic Analysis of Congenital Heart DiseaseR00HL143036 · NHLBI · WASHINGTON UNIVERSITY · PI JIN, SHENG CHIH · 2020 to 2022
$730kIntegrative Genomic Analysis of Congenital Heart DiseaseK99HL143036 · NHLBI · ROCKEFELLER UNIVERSITY · PI JIN, SHENG CHIH · 2019 to 2019
$178kNHLBI NIH HHS K99 HL143036NHLBI NIH HHS R00 HL143036NINDS NIH HHS R01 NS106298
Abstract
PubMed holds no abstract for this paper.
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
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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.