Evidence map›Paper›PMID 42051466›Full record

ArticleHuman mutation2026

De Novo

Neel H Mehta, Evan Dennis, Garrett Allington, Kedous Y Mekbib, Andrew T Hale, William C Davalan, Phan Q Duy, Emmarose Zilla, Baojian Fan, Ekkehard M Kasper and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. De NovoHuman mutation · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Neel H MehtaDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.
Evan DennisDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0000-0002-9741-9275
Garrett AllingtonDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0000-0002-5458-6129
Kedous Y MekbibDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0000-0003-2508-387X
Andrew T HaleDepartment of Neurosurgery, University of Alabama at Birmingham, Birmingham, Alabama, USA, uab.edu.ORCID https://orcid.org/0000-0003-3182-2966
William C DavalanDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0009-0002-8533-5928
Phan Q DuyDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0000-0002-4513-7348
Emmarose ZillaDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0009-0000-9595-5480
Baojian FanDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0000-0002-6851-2737
Ekkehard M KasperDepartment of Neurosurgery, Boston Medical Center, Boston, Massachusetts, USA, bu.edu.ORCID https://orcid.org/0000-0002-7600-3051
Seth L AlperDivision of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA, bidmc.org.ORCID https://orcid.org/0000-0002-6228-2512
Shozeb HaiderSchool of Pharmacy, University College London, London, UK, ucl.ac.uk.ORCID https://orcid.org/0000-0003-2650-2925
Kristopher T KahleDepartment of Neurosurgery, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.ORCID https://orcid.org/0000-0002-5922-7547

Funding

Human Genetics and Molecular Mechanisms of Vein of Galen Aneurysmal MalformationR01NS117609 · NINDS · YALE UNIVERSITY · PI Titus Jonathon Boggon, Kristopher T. Kahle · 2020 to 2026
$3.3M
Human Genetics and Molecular Mechanisms of Congenital HydrocephalusR01NS111029 · NINDS · YALE UNIVERSITY · PI DENIZ, ENGIN, JIN, SHENG CHIH · 2020 to 2024
$2.5M
Modulation of Choroid Plexus Immuno-secretory Function to Restore Cerebrospinal Fluid Homeostasis in HydrocephalusR01NS109358 · NINDS · YALE UNIVERSITY · PI Kristopher T. Kahle · 2018 to 2026
$2.4M
NINDS NIH HHS R01 NS109358NINDS NIH HHS R01 NS111029NINDS NIH HHS R01 NS117609
6 · The paper itself

Abstract

Congenital hydrocephalus (CH), characterized by congenital ventriculomegaly (CV), affects approximately 0.5-1 per 1000 live births and is a common cause of pediatric neurosurgical intervention, yet its genetic architecture remains incompletely defined. We report a child with syndromic CH requiring cerebrospinal fluid diversion who harbored a pathogenic de novo missense variant in

Indexed as

HydrocephalusMutation, Missenseras Guanine Nucleotide Exchange FactorsChild, PreschoolExome SequencingFemaleGuanine Nucleotide Exchange FactorsHumansInfantMalePedigreePhenotypeProtein DomainsProtein Serine-Threonine KinasesGuanine Nucleotide Exchange FactorsProtein Serine-Threonine Kinasesras Guanine Nucleotide Exchange FactorsTRIO protein, humancongenitalgenomicshydrocephalusTRIO

Identifiers

PMID42051466
PMCPMC13115915

What Socratic 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 Socratic graph.