Evidence map›Paper›PMID 34356165›Full record

ArticleBrain sciences2021

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Siddharth Srivastava, Erica L Macke, Lindsay C Swanson, David Coulter, Eric W Klee, Sureni V Mullegama, Yili Xie, Brendan C Lanpher, Emma C Bedoukian, Cara M Skraban and 4 more

Open access · goldAbstract read
In one paragraph

Article in Brain sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

10 citing papers in PubMed, 15 citations in OpenAlex.

  1. An asymptomaticFrontiers in behavioral neuroscience · 2026
    Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. 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

14 authors at 5 institutions in 2 countries.

Siddharth SrivastavaDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Erica L MackeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.
Lindsay C SwansonDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
David CoulterDepartment of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Eric W KleeCenter for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.
Sureni V MullegamaGeneDx Inc., Gaithersburg, MD 20877, USA.
Yili XieGeneDx Inc., Gaithersburg, MD 20877, USA.
Brendan C LanpherCenter for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.
Emma C BedoukianRoberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Cara M SkrabanRoberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Laurent VillardDepartment of Medical Genetics, AP-HM, La Timone Children's Hospital, 13385 Marseille, France.ORCID 0000-0001-6657-5008
Mathieu MilhInserm, Marseille Medical Genetics Center, Faculté de Médecine de Marseille, Aix Marseille University, 13385 Marseille, France.
Mary L O LeppertDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Julie S CohenDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Boston Children's Hospital · USMayo Clinic · USChildren's Hospital of Philadelphia · USInserm · FRKennedy Krieger Institute · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Investigating the Genetic Landscape of Cerebral PalsyK23NS119666 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI SRIVASTAVA, SIDDHARTH · 2021 to 2025
$1.1M
NICHD NIH HHS P50 HD105351NINDS NIH HHS 1K23NS119666-01A1NINDS NIH HHS K23 NS119666
6 · The paper itself

Abstract

In humans, de novo truncating variants in

Indexed as

autismintellectual disabilityneurodevelopmental disorderWASF1

Identifiers

PMID34356165
PMCPMC8307306
OpenAlexW3186380715

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.