ArticleNeuron2018
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Open access · bronzeAbstract read
In one paragraph
Article in Neuron, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
92citing papers in PubMed, 1 pooled it
22.8field-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
92 citing papers in PubMed, 1 synthesis or guideline pooled it, 157 citations in OpenAlex.
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.Molecular genetics & genomic medicine · 2019Trial
- The RNA-binding activity of theRNA biology · 2026Article
- Microglial GRB2 is essential for brain ventriculogenesis and cerebrospinal fluid homeostasis.The Journal of clinical investigation · 2026Article
- Translation of a small upstream open reading frame functions as a rheostat for the regulation ofbioRxiv : the preprint server for biology · 2026Article
- The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.Science China. Life sciences · 2026Article
- RNA-binding is the essential biological function of thebioRxiv : the preprint server for biology · 2026Article
- Fetal mri of obstructive hydrocephalus: a review proposing a surgical etiology-based approach.Neuroradiology · 2026Review
- De NovoHuman mutation · 2026Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Integrative genomics elucidates the evolutionary, temporal, and developmental origins of a hydrocephalus risk gene.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Molecular hallmarks of hydrocephalus.Science translational medicine · 2025Review
- De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.Brain : a journal of neurology · 2025Article
- Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.Nature neuroscience · 2025Article
- TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.Brain : a journal of neurology · 2024Article
- The TRIM-NHL RNA-binding protein Brain Tumor coordinately regulates expression of the glycolytic pathway and vacuolar ATPase complex.Nucleic acids research · 2024Article
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
32 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
45 authors at 16 institutions in 3 countries.
Charuta Gavankar FureyDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Jungmin ChoiDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Sheng Chih JinDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Xue ZengDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Andrew T TimberlakeDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Carol Nelson-WilliamsDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
M Shahid MansuriDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Qiongshi LuDepartment of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI 53706, USA.
Daniel DuranDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Shreyas PanchagnulaDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
August AlloccoDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Jason K KarimyDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Arjun KhannaDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Jonathan R GaillardDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Tyrone DeSpenzaDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Prince AntwiDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Erin LoringDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
William E ButlerDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Edward R SmithDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Benjamin C WarfDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Jennifer M StrahleDepartment of Neurological Surgery and Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.
David D LimbrickDepartment of Neurological Surgery and Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.
Phillip B StormDepartment of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Gregory HeuerDepartment of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Eric M JacksonDepartment of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
Bermans J IskandarDepartment of Neurological Surgery, University of Wisconsin Medical School, Madison, WI 53726, USA.
James M JohnstonDepartment of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL 35233, USA.
Irina TikhonovaYale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
Christopher CastaldiYale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
Francesc López-GiráldezYale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
Robert D BjornsonYale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
James R KnightDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Yale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
Kaya BilguvarYale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
Shrikant ManeYale Center for Genome Analysis, Yale University, New Haven, CT 06510, USA.
Seth L AlperDivision of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, MA 02215, USA.
Shozeb HaiderDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, UK.
Bulent GucluKartal Dr. Lutfi Kirdar Research and Training Hospital, Istanbul 34860, Turkey.
Yasar BayriAcibadem Mehmet Ali Aydinlar University, School of Medicine, Department of Neurosurgery, Division of Pediatric Neurosurgery, Istanbul 34752, Turkey.
Yener SahinAcibadem Mehmet Ali Aydinlar University, School of Medicine, Department of Neurosurgery, Division of Pediatric Neurosurgery, Istanbul 34752, Turkey.
Michael L J ApuzzoDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Charles C DuncanDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Michael L DiLunaDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Murat GünelDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA.
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.
Kristopher T KahleDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Cellular & Molecular Physiology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address: kristopher.kahle@yale.edu.
Yale University · USMassachusetts General Hospital · USWashington University in St. Louis · USAcıbadem Adana Hospital · TRBoston Children's Hospital · USCenter for Vascular Biology Research · USChildren's Hospital of Philadelphia · USDr Lütfi Kırdar Kartal Eğitim ve Araştırma Hastanesi · TRHarvard University · USHospital of the University of Pennsylvania · USJohns Hopkins University · USKent Hastanesi · TRNeurological Surgery · USUniversity College London · GBUniversity of Alabama · USUniversity of Wisconsin–Madison · US
Funding
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MNRSA Training CoreTL1TR001864 · NCATS · YALE UNIVERSITY · PI CANTLEY, LLOYD G, EDELMAN, E. JENNIFER · 2016 to 2025
$9.9MHuman Genetics and Molecular Mechanisms of Congenital HydrocephalusR01NS111029 · NINDS · YALE UNIVERSITY · PI DENIZ, ENGIN, JIN, SHENG CHIH · 2020 to 2024
$2.5MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysisS10OD030363 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2022 to 2022
$1.2MHigh Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890kNCATS NIH HHS TL1 TR001864NHGRI NIH HHS U54 HG006504NIGMS NIH HHS T32 GM007205NIH HHS S10 OD018521NIH HHS S10 OD030363NINDS NIH HHS R01 NS111029
Abstract
Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing of 125 CH trios and 52 additional probands identified three genes with significant burden of rare damaging de novo or transmitted mutations: TRIM71 (p = 2.15 × 10
Indexed as
Cohort StudiesExomeExome SequencingFemaleHumansHydrocephalusMaleMutationNeural Stem CellsPatched-1 ReceptorPedigreeTranscription FactorsPatched-1 ReceptorPTCH1 protein, humanSMARCC1 protein, humanTranscription Factorsaqueductal stenosiscongenital hydrocephalusde novo variantsgene discoveryneural stem cellPTCH1SHHSMARCC1TRIM71whole-exome sequencing
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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.