ArticleNature medicine2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
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Article in Nature medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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0cells of the map it votes in
12citing papers in PubMed
2.4field-weighted citation impact, top 12% of its field
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Case Report: Sustained Cognitive Improvement and Reversible Brain Hypoperfusion in the Context of Posterior Fossa Arachnoid Cyst Shunting Procedure in KBG Syndrome.Cerebellum (London, England) · 2026Article
- TCF12-related bicoronal craniosynostosis complicated by a large middle fossa arachnoid cyst and developmental regression: a case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Review
- Beyond mass effect: An age-stratified analysis of CSF circulation disturbance in symptomatic intracranial arachnoid cysts.Brain & spine · 2026Article
- De NovoHuman mutation · 2026Article
- Clinical phenotypes among patients with familial forms of Chiari malformation type 1.Journal of neurosurgery. Pediatrics · 2025Article
- Challenges and Advantages of Using Spatially Resolved Lipidomics to Assess the Pathological State of Human Lung Tissue.Cancers · 2025Article
- De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly.Brain : a journal of neurology · 2025Article
- A Comprehensive Review of Arachnoid Cysts.Cureus · 2025Review
- PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.Nature neuroscience · 2025Article
- Examination of intracranial arachnoid cysts in children, symptomatic or asymptomatic.Current journal of neurology · 2024Article
- Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.American journal of human genetics · 2024Article
Corrections and comments
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Authors and funding
36 authors at 11 institutions in 2 countries.
Adam J Kundishora *Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-6419-7955
Garrett Allington *Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-5458-6129
Stephen McGee *GeneDx, Gaithersburg, MD, USA.ORCID http://orcid.org/0000-0003-3553-0354
Kedous Y Mekbib *Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-2508-387X
Vladimir GainullinGeneDx, Gaithersburg, MD, USA.
Andrew T TimberlakeHansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-8926-9692
Carol Nelson-WilliamsDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-0768-4751
Emre KiziltugDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Hannah SmithDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Jack OckenDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
John ShohfiDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
August AlloccoDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Phan Q DuyDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-4513-7348
Aladine A ElsamadicyDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Weilai DongLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.ORCID http://orcid.org/0000-0002-8376-1758
Shujuan ZhaoDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0003-0248-0119
Yung-Chun WangDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Hanya M QureshiDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Michael L DiLunaDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
Shrikant ManeDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Irina R TikhonovaSchool of Pharmacy, Queen's University Belfast, Belfast, UK.
Po-Ying FuDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0003-2536-7290
Christopher CastaldiYale Center for Genomic Analysis, Yale University, West Haven, CT, USA.
Francesc López-GiráldezYale Center for Genomic Analysis, Yale University, West Haven, CT, USA.ORCID http://orcid.org/0000-0001-7476-9822
James R KnightYale Center for Genomic Analysis, Yale University, West Haven, CT, USA.ORCID http://orcid.org/0000-0003-1166-0437
Charuta G FureyDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0003-3313-2563
Bob S CarterDepartment of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.
Shozeb HaiderSchool of Pharmacy, University College London, London, UK.ORCID http://orcid.org/0000-0003-2650-2925
Andres Moreno-De-LucaDepartment of Radiology, Autism and Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA, USA.ORCID http://orcid.org/0000-0002-2732-4043
Seth L AlperDivision of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-6228-2512
Murat GunelDepartment of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-2290-7055
Francisca MillanGeneDx, Gaithersburg, MD, USA.
Richard P LiftonLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
Rebecca I Torene *GeneDx, Gaithersburg, MD, USA.
Sheng Chih Jin *Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Kristopher T Kahle *Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA. kahle.kristopher@mgh.harvard.edu.ORCID http://orcid.org/0000-0002-5922-7547
Yale University · USWashington University in St. Louis · USYale Cancer Center · USRockefeller University · USAutism & Developmental Medicine Institute · USBeth Israel Deaconess Medical Center · USBroad Institute · USMassachusetts General Hospital · USNYU Langone Health · USQueen's University Belfast · GBUniversity College London · GB
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
$2.5MModulation 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 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 TR001864NHGRI NIH HHS U54 HG006504NHLBI NIH HHS K99 HL143036NHLBI NIH HHS R00 HL143036NIGMS NIH HHS T32 GM007205NINDS NIH HHS R01 NS109358NINDS NIH HHS R01 NS111029NINDS NIH HHS R01 NS131610
Abstract
Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an integrated analysis of 617 patient-parent (trio) exomes, 152,898 human brain and mouse meningeal single-cell RNA sequencing transcriptomes and natural language processing data of patient medical records. We found that damaging de novo variants (DNVs) were highly enriched in patients with ACs compared with healthy individuals (P = 1.57 × 10
Indexed as
Arachnoid CystsMultiomicsAnimalsBrainExomeGenetic TestingHumansMice
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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 Socratic graph.