ArticleNature communications2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Pediatric non-galenic pial arteriovenous fistula's characteristics and outcomes: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Pooled it
- Genetically Guided Pharmacotherapy for Structural Neurovascular Lesions.Neurology. Genetics · 2026Article
- Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors in vitro.The Journal of biological chemistry · 2026Article
- Towards precision medicine for brain arteriovenous malformations.The Journal of clinical investigation · 2026Review
- Identification of key genes as diagnostic biomarkers for lung adenocarcinoma using bioinformatics and machine learning.Discover oncology · 2026Article
- De NovoHuman mutation · 2026Article
- Microbiota-host crosstalk: the role of short-term dietary restriction in neurological and metabolic dysregulation.NPJ biofilms and microbiomes · 2025Article
- Michaelis-Menten kinetics of RasGAP proteins by a rapid fluorescence-based assay.Methods (San Diego, Calif.) · 2025Article
- Clinically observedbioRxiv : the preprint server for biology · 2025Article
- Precision medicine in the pediatric and neonatal intensive care units through genomics.Current opinion in pediatrics · 2025Review
- De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.Brain : a journal of neurology · 2025Article
- The C2 domain augments Ras GTPase-activating protein catalytic activity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Cerebrovascular Anomalies in the Fetus.AJNR. American journal of neuroradiology · 2025Review
- Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.Frontiers in genetics · 2025Article
- Update on the Vein of Galen Aneurysmal Malformation : Disease Concept and Genetics.Journal of Korean Neurosurgical Society · 2024Article
- Pediatric Cerebral Vascular Malformations : Current and Future Perspectives.Journal of Korean Neurosurgical Society · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
66 authors at 20 institutions in 3 countries.
Shujuan Zhao *Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-0248-0119
Kedous Y Mekbib *Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-2508-387X
Martijn A van der Ent *Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA.
Garrett Allington *Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-5458-6129
Andrew PrendergastYale Zebrafish Research Core, Yale School of Medicine, New Haven, CT, USA.
Jocelyn E ChauDepartment of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-8623-3347
Hannah SmithDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
John ShohfiDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Jack OckenDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Daniel DuranDepartment of Neurosurgery, University of Mississippi Medical Center, Jackson, MS, USA.ORCID 0000-0001-6888-252X
Charuta G FureyDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Le Thi HaoDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Phan Q DuyDepartment of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA, USA.
Benjamin C ReevesDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-5924-6991
Junhui ZhangDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Carol Nelson-WilliamsDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-0768-4751
Di ChenDepartment of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA.
Boyang LiDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.ORCID 0000-0003-2808-9986
Timothy NottoliYale Genome Editing Center, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-2218-5590
Suxia BaiYale Genome Editing Center, Department of Comparative Medicine, Yale School of Medicine, New Haven, CT, USA.
Myron RolleDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Xue ZengDepartment of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-6064-5340
Weilai DongDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-8376-1758
Po-Ying FuDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-2536-7290
Yung-Chun WangDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Shrikant ManeDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Paulina PiwowarczykDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Katie Pricola FehnelDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Alfred Pokmeng SeeDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Bermans J IskandarDepartment of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.ORCID 0000-0002-3856-1597
Beverly Aagaard-KienitzDepartment of Neurological Surgery, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Quentin J MoyerDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Evan DennisDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-9741-9275
Emre KiziltugDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Adam J KundishoraDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-6419-7955
Tyrone DeSpenzaDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-3789-6440
Ana B W GreenbergDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Seblewengel M KidanemariamDepartment of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.
Andrew T HaleDepartment of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA.
James M JohnstonDepartment of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA.
Eric M JacksonDepartment of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-9306-9290
Phillip B StormDepartment of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
Shih-Shan LangDepartment of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.
William E ButlerDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-4249-565X
Bob S CarterDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Paul ChapmanDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Christopher J StapletonDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Aman B PatelDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Georges RodeschService de Neuroradiologie Diagnostique et Thérapeutique, Hôpital Foch, Suresnes, France.
Stanislas SmajdaDepartment of Interventional Neuroradiology, Hôpital Fondation A. de Rothschild, Paris, France.
Alejandro BerensteinDepartment of Neurosurgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Tanyeri BarakDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
E Zeynep Erson-OmayDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Hongyu ZhaoDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-1195-9607
Andres Moreno-De-LucaDepartment of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA, USA.ORCID 0000-0002-2732-4043
Mark R ProctorDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Edward R SmithDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Darren B OrbachDepartment of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-1793-3398
Seth L AlperDivision of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-6228-2512
Stefania NicoliDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-7055-340X
Titus J BoggonDepartment of Molecular Biophysics and Biochemistry, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-2862-1637
Richard P LiftonLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
Murat GunelDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0002-2290-7055
Philip D KingDepartment of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI, USA. kingp@umich.edu.ORCID 0000-0002-5598-2748
Sheng Chih JinDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA. jin810@wustl.edu.ORCID 0000-0002-5777-7262
Kristopher T KahleDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Kahle.Kristopher@mgh.harvard.edu.ORCID 0000-0002-5922-7547
Yale University · USHarvard University · USBoston Children's Hospital · USUniversity of Michigan · USWashington University in St. Louis · USChildren's Hospital of Philadelphia · USFondation de Rothschild · FRUniversity of Alabama · USUniversity of Wisconsin–Madison · USAutism & Developmental Medicine Institute · USBarrow Neurological Institute · USBeth Israel Deaconess Medical Center · USBroad Institute · USIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · USRockefeller University · USUniversity of Mississippi Medical Center · USUniversity of Ottawa · CAUniversity of Virginia · USYale Cancer Center · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MMEDICAL 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
$9.9MRas-MAPK Regulation of Lymphatic Vessel Valve DevelopmentR01HL120888 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PHILIP D KING · 2015 to 2026
$4.6MHuman Genetics and Molecular Mechanisms of Vein of Galen Aneurysmal MalformationR01NS117609 · NINDS · YALE UNIVERSITY · PI Titus Jonathon Boggon, Kristopher T. Kahle · 2020 to 2026
$3.3MHuman Genetics and Molecular Mechanisms of Congenital HydrocephalusR01NS111029 · NINDS · YALE UNIVERSITY · PI DENIZ, ENGIN, JIN, SHENG CHIH · 2020 to 2024
$2.5MModulation of Choroid Plexus Immuno-secretory Function to Restore Cerebrospinal Fluid Homeostasis in HydrocephalusR01NS109358 · NINDS · YALE UNIVERSITY · PI Kristopher T. Kahle · 2018 to 2026
$2.4MMolecular pathogenetic mechanisms in CM-AVMR01HL146352 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KING, PHILIP D · 2020 to 2023
$2.2MMolecular and cellular characterization of congenital hydrocephalusR01NS131610 · NINDS · WASHINGTON UNIVERSITY · PI Sheng Chih Jin · 2024 to 2026
$1.3MIntegrative 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
$178kNCATS NIH HHS TL1 TR001864NCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NHLBI NIH HHS K99 HL143036NHLBI NIH HHS R00 HL143036NHLBI NIH HHS R01 HL120888NHLBI NIH HHS R01 HL146352NIGMS NIH HHS T32 GM007205NINDS NIH HHS R01 NS109358NINDS NIH HHS R01 NS111029NINDS NIH HHS R01 NS131610
Abstract
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature single-cell transcriptomes. We found the Ras suppressor p120 RasGAP (RASA1) harbored a genome-wide significant burden of loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10
Indexed as
Vascular DiseasesVein of Galen MalformationsActivin Receptors, Type IIAnimalsEndothelial CellsGTPase-Activating ProteinsHumansMiceMutationMutation, Missensep120 GTPase Activating ProteinSignal TransductionActivin Receptors, Type IIACVRL1 protein, humanGTPase-Activating Proteinsp120 GTPase Activating ProteinRASA1 protein, human
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.