ArticleProceedings of the National Academy of Sciences of the United States of America2024
Pathogenic variants in autism gene
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In one paragraph
Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
8 citing papers in PubMed.
- In situ proteomics unveils specialized domains for extrasynaptic signaling on neuronal cilia.Science advances · 2026Article
- A TRPM4-associated necrotic cell death signature for prognostic stratification in pancreatic cancer.Journal of gastrointestinal oncology · 2026Article
- Fecal microbiota transplantation and Akkermansia muciniphila restore neurodevelopment and behavior via the gut-brain axis in autism-like zebrafish.The ISME journal · 2026Article
- De NovoHuman mutation · 2026Article
- Fingolimod Exerts Therapeutic Effects on Autistic Mice via Improving the Structure and Function of Meningeal Lymphatics.CNS neuroscience & therapeutics · 2025Article
- De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.Brain : a journal of neurology · 2025Article
- Circadian cilia transcriptome in mouse brain across physiological and pathological states.Molecular brain · 2024Article
- KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
Corrections and comments
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Authors and funding
32 authors.
Tyrone DeSpenza *Interdepartmental Neuroscience Program, Yale School of Medicine, Yale University, New Haven, CT 06510.
Amrita Singh *Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510.
Garrett Allington *Department of Pathology, Yale School of Medicine, Yale University, New Haven, CT 06510.ORCID 0000-0002-5458-6129
Shujuan Zhao *Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110.
Junghoon Lee *Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.ORCID 0000-0003-0013-6912
Emre Kiziltug *Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510.
Mackenzi L PrinaDepartment of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.ORCID 0009-0003-1096-2633
Nicole DesmetDepartment of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.
Huy Q DangDepartment of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.
Jennifer FieldsDepartment of Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.
Carol Nelson-WilliamsDepartment of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510.
Junhui ZhangDepartment of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510.ORCID 0000-0003-0049-8032
Kedous Y MekbibDepartment of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510.
Evan DennisDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115.ORCID 0000-0002-9741-9275
Neel H MehtaDepartment of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115.
Phan Q DuyInterdepartmental Neuroscience Program, Yale School of Medicine, Yale University, New Haven, CT 06510.
Hermela ShimelisAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17821.
Lauren K WalshAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17821.
Arnaud MarlierInterdepartmental Neuroscience Program, Yale School of Medicine, Yale University, New Haven, CT 06510.
Engin DenizDepartment of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0002-2999-0429
Evelyn M R LakeDepartment of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT 06520-8042.
R Todd ConstableDepartment of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, CT 06520-8042.
Ellen J HoffmanInterdepartmental Neuroscience Program, Yale School of Medicine, Yale University, New Haven, CT 06510.ORCID 0000-0002-5083-1369
Richard P LiftonLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065.ORCID 0000-0002-5745-5984
Allan GulledgeDepartment of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.ORCID 0000-0002-5721-374X
Steven FieringDepartment of Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.ORCID 0000-0003-0624-974X
Andres Moreno-De-LucaAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17821.
Shozeb HaiderDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London WC1N 1AX, United Kingdom.ORCID 0000-0003-2650-2925
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.ORCID 0000-0002-6228-2512
Sheng Chih JinDepartment of Genetics, Washington University School of Medicine, St. Louis, MO 63110.
Kristopher T KahleDepartment of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT 06510.
Bryan W LuikartDepartment of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755.ORCID 0000-0002-3181-6075
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MTranslational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Fred W Kolling IV · 1985 to 2026
$91.3MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9MThe Impact of PTEN Signaling on Neuronal Form and FunctionR01MH097949 · NIMH · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI BRYAN W LUIKART · 2012 to 2026
$7.4MHuman 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
$2.4MAnalysis of Congenital Hydrocephalus Genes in XenopusR01NS127879 · NINDS · YALE UNIVERSITY · PI ENGIN DENIZ · 2022 to 2026
$2.3MCoordinated modulation of cortical circuits by serotonin and acetylcholineR01MH124934 · NIMH · DARTMOUTH COLLEGE · PI GULLEDGE, ALLAN T · 2021 to 2025
$2.0MMolecular and cellular characterization of congenital hydrocephalusR01NS131610 · NINDS · WASHINGTON UNIVERSITY · PI Sheng Chih Jin · 2024 to 2026
$1.3MThe Role of Pten in Congenital HydrocephalusF31NS115519 · NINDS · YALE UNIVERSITY · PI DESPENZA, TYRONE · 2020 to 2022
$62kHHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 1R01MH097949HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) 1R01NS109358-01HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) 1R01NS111029-01A1HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) F31NS115519HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS127879NCATS NIH HHS UL1 TR001863NCI NIH HHS P30 CA023108NIGMS NIH HHS T32 GM007205NIMH NIH HHS R01 MH097949NIMH NIH HHS R01 MH124934NINDS NIH HHS F31 NS115519NINDS NIH HHS R01 NS109358NINDS NIH HHS R01 NS111029NINDS NIH HHS R01 NS127879NINDS NIH HHS R01 NS131610
Abstract
Enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles (cerebral ventriculomegaly), the cardinal feature of congenital hydrocephalus (CH), is increasingly recognized among patients with autism spectrum disorders (ASD).
Indexed as
CiliaHydrocephalusMicrotubulesAnimalsATPases Associated with Diverse Cellular ActivitiesAutism Spectrum DisorderEpendymaFemaleHumansKataninMaleMiceNeuronsPyramidal CellsATPases Associated with Diverse Cellular ActivitiesKataninKATNAL2 protein, humanKATNAL2 protein, mouseautismcerebrospinal fluid dynamicsciliopathyhydrocephalusstructural brain disorder
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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.