Evidence map›Paper›PMID 29375855›Full record

ArticleClinical case reports2018

Longitudinal report of child with de novo 16p11.2 triplication.

Arianne S Wallace, Caitlin M Hudac, Kyle J Steinman, Jessica L Peterson, Trent D DesChamps, Michael H Duyzend, Xander Nuttle, Evan E Eichler, Raphael A Bernier

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.9field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024
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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

9 authors at 2 institutions in 1 country.

Arianne S WallaceDepartment of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.ORCID 0000-0002-2157-7672
Caitlin M HudacDepartment of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.ORCID 0000-0002-0478-440X
Kyle J SteinmanDepartment of Neurology University of Washington School of Medicine Seattle Washington 98195.ORCID 0000-0001-6309-5842
Jessica L PetersonDepartment of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.
Trent D DesChampsDepartment of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.
Michael H DuyzendDepartment of Genome Sciences University of Washington School of Medicine Seattle Washington 98195.ORCID 0000-0002-3941-6447
Xander NuttleDepartment of Genome Sciences University of Washington School of Medicine Seattle Washington 98195.
Evan E EichlerDepartment of Genome Sciences University of Washington School of Medicine Seattle Washington 98195.ORCID 0000-0002-8246-4014
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences University of Washington Seattle Washington 98195.ORCID 0000-0003-1854-2804
University of Washington · USHoward Hughes Medical Institute · US

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI Sandra E Juul · 2020 to 2026
$9.9M
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
TRAINING PROGRAM IN REPRODUCTIVE &DEVELOPMENTAL BIOLOGYT32HD007396 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI CROWLEY, WILLIAM FRANCIS · 1991 to 2018
$2.5M
NICHD NIH HHS P50 HD103524NICHD NIH HHS T32 HD007396NICHD NIH HHS U54 HD083091NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical characteristics and higher penetrance for deletions. A male with a rare 16p11.2 triplication demonstrated a similar phenotypic presentation to deletion carriers with neurocognitive and adaptive skill deficits and above-average physical growth.

Indexed as

16p11.2 deletion16p11.2 duplication16p11.2 triplicationASD risk variantgene triplication

Identifiers

PMID29375855
PMCPMC5771938
OpenAlexW2773849826

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.