Genetics Sheds New Light on Congenital Hydrocephalus Biology.

Dennis Lal, Aarno Palotie

Open access · bronzeAbstract readComment

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 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed, 1 pooled it

–field-weighted citation impact, top 92% of its field

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 synthesis or guideline pooled it, 3 citations in OpenAlex.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.JAMA network open · 2023
Pooled it

4 · The record

Corrections and comments

Comment on
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.2018

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 3 countries.

Dennis LalAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, OH 44195, USA; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

Aarno PalotieAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, USA; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland, University of Helsinki, 00290 Helsinki, Finland; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: aarno@broadinstitute.org.

Cleveland Clinic Lerner College of Medicine · USMassachusetts General Hospital · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A genetic informed approach sheds new light on the biology of congenital hydrocephalus (CH), on which previous knowledge of the genetic background is scanty. In this issue, Furey et al. (2018) discover that variants in four genes associated with neurogenesis are implicated in CH.

Indexed as

HydrocephalusNeural Stem CellsBiologyHumansMutation

Identifiers

PMID30048611

DOI10.1016/j.neuron.2018.07.008

OpenAlexW2883727108

What OpenQuestion holds

Textmetadata

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.