Evidence map›Paper›PMID 21594611›Full record

ReviewHuman genetics2011

Genomic medicine and neurological disease.

Philip M Boone, Wojciech Wiszniewski, James R Lupski

Abstract readReview
In one paragraph

Review in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. 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.

Philip M BooneDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wojciech Wiszniewski
James R Lupski

Funding

ZOLENDRONIC ACID IN CHILDREN W/ SEVERE OSTEOGENESIS IMPERFECTAM01RR000188 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI SHEARER, WILLIAM THOMAS · 1985 to 2011
$30.6M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007330 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI PLON, SHARON E. · 1985 to 2019
$15.6M
Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0M
MOLECULAR GENETICS EMPHASIZING VISION RESEARCHT32EY007102 · NEI · BAYLOR COLLEGE OF MEDICINE · PI MARDON, GRAEME · 1988 to 2019
$3.8M
NCRR NIH HHS M01 RR000188NEI NIH HHS T32 EY007102NEI NIH HHS T32EY007102NIGMS NIH HHS T32 GM007330NIGMS NIH HHS T32GM007330-34NINDS NIH HHS R01 NS058529NINDS NIH HHS R01NS058529
6 · The paper itself

Abstract

"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease--as well as screening, counseling, and disease gene identification--in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.

Indexed as

Genetics, MedicalGenomicsBiomedical TechnologyDisease ManagementHumansInternetMicroarray AnalysisMutationNervous System Diseases

Identifiers

PMID21594611
PMCPMC3133694

What OpenQuestion holds

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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.