Evidence map›Paper›PMID 30345165›Full record

ArticleCurrent genetic medicine reports2014

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders.

Jun Shen, Sharyn Lincoln, David T Miller

Open access · bronzeAbstract read
In one paragraph

Article in Current genetic medicine reports, 2014. 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
0.8field-weighted citation impact, top 29% 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, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. Overview: referrals for genetic evaluation from child psychiatrists.Child and adolescent psychiatry and mental health · 2016
    Article
  4. Article
  5. 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

3 authors at 2 institutions in 1 country.

Jun ShenDepartment of Pathology, Brigham and Women's Hospital, Boston, MA 02115.
Sharyn LincolnDivision of Genetics, Boston Children's Hospital, Boston, MA 02115.
David T MillerHarvard Medical School, Boston, MA 02115.
Harvard University · USBoston Children's Hospital · US

Funding

Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI MARTIN, CHRISTA LESE, REHM, HEIDI L · 2013 to 2020
$26.9M
NHGRI NIH HHS U41 HG006834
6 · The paper itself

Abstract

The prevalence of autism spectrum disorders (ASD) continues to increase. Genetic factors play an important role in the etiology of ASD, although specific genetic causes are identified in only a minority of cases. Recent advances have accelerated the discovery of genes implicated in ASD through convergent genomic analysis of genome-wide association studies, chromosomal microarray, exome sequencing, genome sequencing, and gene networks. Hundreds of candidate genes for ASD have been reported, yet only a handful have proven causative. Symptoms are complex and highly variable, and most cases are likely due to cumulative genetic factors, the interactions among them, as well as environmental factors. Here we summarize recent findings in genomic research regarding discovery of candidate genes, describe the major molecular processes in neural development that may be disrupted in ASD, and discuss the implication of research findings in clinical genetic diagnostic testing and counseling. Continued advances in genetic research will eventually translate into innovative approaches to prevention and treatment of ASD.

Indexed as

Autism Spectrum Disorders (ASD)copy number variation (CNV)de novo mutationincidental findings (IF)next-generation sequencing (NGS)variants of uncertain significance (VUS)

Identifiers

PMID30345165
PMCPMC6192539
OpenAlexW2093179487

What OpenQuestion holds

Textmetadata
LicenceTDM
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.