Evidence map›Paper›PMID 30150678›Full record

ArticleNature communications2018

MAP1B mutations cause intellectual disability and extensive white matter deficit.

G Bragi Walters, Omar Gustafsson, Gardar Sveinbjornsson, Valgerdur K Eiriksdottir, Arna B Agustsdottir, Gudrun A Jonsdottir, Stacy Steinberg, Arni F Gunnarsson, Magnus I Magnusson, Unnur Unnsteinsdottir and 18 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
2.5field-weighted citation impact, top 10% 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

24 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Article
  3. Novel Splice Site Variant inThe Yale journal of biology and medicine · 2026
    Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Novel MAP1B loss-of-function variant associated with periventricular nodular heterotopia 9 and literature review on genotype-phenotype associations of MAP1B.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  10. Article
  11. Article
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  14. Article
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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

28 authors at 3 institutions in 2 countries.

G Bragi WaltersdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Omar GustafssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Gardar SveinbjornssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Valgerdur K EiriksdottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0003-0110-1877
Arna B AgustsdottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Gudrun A JonsdottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Stacy SteinbergdeCODE genetics/Amgen, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0001-7726-5152
Arni F GunnarssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Magnus I MagnussondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Unnur UnnsteinsdottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Amy L LeedeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Adalbjorg JonasdottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Asgeir SigurdssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Aslaug JonasdottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Astros SkuladottirdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Lina JonssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Muhammad S NawazdeCODE genetics/Amgen, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0002-5576-9007
Patrick SulemdeCODE genetics/Amgen, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Mike FriggedeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Andres IngasondeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Askell LoveFaculty of Medicine, University of Iceland, Reykjavik, 101, Iceland.
Gudmundur L NorddhaldeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Mark ZervasdeCODE genetics/Amgen, Reykjavik, 101, Iceland.
Daniel F GudbjartssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Magnus O UlfarssondeCODE genetics/Amgen, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0002-0461-040X
Evald SaemundsenFaculty of Medicine, University of Iceland, Reykjavik, 101, Iceland.ORCID http://orcid.org/0000-0001-6912-5846
Hreinn StefanssondeCODE genetics/Amgen, Reykjavik, 101, Iceland. hreinn@decode.is.ORCID http://orcid.org/0000-0002-9331-6666
Kari StefanssondeCODE genetics/Amgen, Reykjavik, 101, Iceland. kstefans@decode.is.
deCODE Genetics (Iceland) · ISReykjavík University · ISUniversity of Iceland · IS

Funding

EC | Seventh Framework Programme (European Union Seventh Framework Programme) 286213EC | Seventh Framework Programme (European Union Seventh Framework Programme) 602450
6 · The paper itself

Abstract

Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (β = -2.1SD, P = 5.1 × 10

Indexed as

AnimalsBrainCognitionCorpus CallosumFemaleFragile X Messenger Ribonucleoprotein 1Intellectual DisabilityMaleMiceMice, KnockoutMicrotubule-Associated ProteinsMutationPedigreeWhite MatterFmr1 protein, mouseFragile X Messenger Ribonucleoprotein 1microtubule-associated protein 1BMicrotubule-Associated Proteins

Identifiers

PMID30150678
PMCPMC6110722
OpenAlexW2888190628

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.