Evidence map›Paper›PMID 32544666›Full record

ReviewCurrent opinion in genetics & development2020

Long overdue: including adults with brain disorders in precision health initiatives.

Brenda M Finucane, Scott M Myers, Christa L Martin, David H Ledbetter

Open access · hybridAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.2field-weighted citation impact, top 22% 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

9 citing papers in PubMed, 20 citations in OpenAlex.

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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

4 authors at 1 institution in 1 country.

Brenda M FinucaneAutism & Developmental Medicine Institute, Geisinger, United States. Electronic address: bmfinucane@geisinger.edu.
Scott M MyersAutism & Developmental Medicine Institute, Geisinger, United States.
Christa L MartinAutism & Developmental Medicine Institute, Geisinger, United States.
David H LedbetterAutism & Developmental Medicine Institute, Geisinger, United States.
Autism & Developmental Medicine Institute · US

Funding

GENE DOSAGE IMBALANCE IN NEURODEVELOPMENTAL DISORDERSR01MH074090 · NIMH · GEISINGER CLINIC · PI David H. Ledbetter, CHRISTA LESE MARTIN · 2005 to 2026
$13.5M
Leveraging rare genetic etiologies to advance knowledge and treatment of neurpsychiatric disordersU01MH119705 · NIMH · GEISINGER CLINIC · PI LEDBETTER, DAVID H., MARTIN, CHRISTA LESE · 2019 to 2023
$9.2M
Gender differences in quantitative measures of autonomic function and clinical features of the autism phenotypeR01MH107431 · NIMH · GEISINGER CLINIC · PI MARTIN, CHRISTA LESE · 2015 to 2019
$3.4M
NIMH NIH HHS R01 MH074090NIMH NIH HHS R01 MH107431NIMH NIH HHS U01 MH119705
6 · The paper itself

Abstract

Developmental brain disorders (DBD), including autism spectrum disorder, intellectual disability, and schizophrenia, are clinically defined and etiologically heterogeneous conditions with a wide range of outcomes. Rare pathogenic copy number and single nucleotide genomic variants are among the most common known etiologies, with diagnostic yields approaching for some DBD cohorts. Incorporating genetic testing into the care of adult patients with DBD, paired with targeted genetic counseling and family cascade testing, may increase self-advocacy and decrease stigma. In the long-term, breakthroughs in the understanding of DBD pathophysiology will hinge on the identification, engagement, and study of individuals with rare genetic DBD etiologies, consistent with successful precision medicine approaches to the treatment of cancer and cardiovascular disease.

Indexed as

DNA Copy Number VariationsGenetic Predisposition to DiseasePrecision MedicineAdultBrain DiseasesGenetic TestingGenomicsHumans

Identifiers

PMID32544666
PMCPMC7736248
OpenAlexW3034257672

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.