Evidence map›Paper›PMID 29241461›Full record

ArticleGenome medicine2017

Mapping a shared genetic basis for neurodevelopmental disorders.

Matthew Jensen, Santhosh Girirajan

Open access · goldAbstract readComment
In one paragraph

Article in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
4.0field-weighted citation impact, top 6% 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

21 citing papers in PubMed, 42 citations in OpenAlex.

  1. Article
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  4. Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Matthew JensenBioinformatics and Genomics Graduate Program, The Huck Institutes of Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA.
Santhosh GirirajanBioinformatics and Genomics Graduate Program, The Huck Institutes of Life Sciences, Pennsylvania State University, University Park, PA, 16802, USA. sxg47@psu.edu.ORCID 0000-0003-0598-4945
Pennsylvania State University · US

Funding

Genomic basis of phenotypic variability of genomic disordersR01GM121907 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI GIRIRAJAN, SANTHOSH · 2017 to 2025
$5.2M
Computation, Bioinformatics, and Statistics (CBIOS) Training ProgramT32GM102057 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI CHIAROMONTE, FRANCESCA, GIRIRAJAN, SANTHOSH · 2013 to 2022
$2.7M
NIGMS NIH HHS GM121907NIGMS NIH HHS R01 GM121907NIGMS NIH HHS T32 GM102057Simons Foundation #399894
6 · The paper itself

Abstract

Distinct neurodevelopmental disorders have a common genetic etiology that explains the high degree of comorbidity among these disorders. A recent study sought to identify copy number variants across five neurodevelopmental disorders, and detected an enrichment for chromosome 9p24.3 duplication encompassing DOCK8 and KANK1 in affected individuals. Such large-scale studies will help uncover additional causative and modifier loci within common pathways, which will enable the development of therapeutic targets for the treatment of multiple disorders.See related research 10.1186/s13073-017-0494-1.

Indexed as

DNA Copy Number VariationsNeurodevelopmental DisordersAdaptor Proteins, Signal TransducingCytoskeletal ProteinsGuanine Nucleotide Exchange FactorsHumansTumor Suppressor ProteinsAdaptor Proteins, Signal TransducingCytoskeletal ProteinsDOCK8 protein, humanGuanine Nucleotide Exchange FactorsKANK1 protein, humanTumor Suppressor ProteinsCausative variantsComplex diseaseCopy number variantsGene discoveryModifiersNeurodevelopmental disorders

Identifiers

PMID29241461
PMCPMC5729609
OpenAlexW2775791875

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.