Evidence map›Paper›PMID 27637763›Full record

ArticleHuman genetics2016

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Erin M Hagen, Robert J Sicko, Denise M Kay, Shannon L Rigler, Aggeliki Dimopoulos, Shabbir Ahmad, Margaret H Doleman, Ruzong Fan, Paul A Romitti, Marilyn L Browne and 5 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

11 citing papers in PubMed, 23 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

15 authors at 9 institutions in 1 country.

Erin M HagenDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA.
Robert J SickoWadsworth Center, New York State Department of Health, 120 New Scotland Avenue, Albany, NY, 12201-2002, USA.
Denise M KayWadsworth Center, New York State Department of Health, 120 New Scotland Avenue, Albany, NY, 12201-2002, USA.
Shannon L RiglerDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA.
Aggeliki DimopoulosDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA.
Shabbir AhmadCalifornia Birth Defects Monitoring Program, California Department of Public Health, 1615 Capitol Avenue, MS 8304, Sacramento, CA, 95899-7420, USA.
Margaret H DolemanCalifornia Birth Defects Monitoring Program, California Department of Public Health, 1615 Capitol Avenue, MS 8304, Sacramento, CA, 95899-7420, USA.
Ruzong FanDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA.
Paul A RomittiDepartment of Epidemiology, College of Public Health, The University of Iowa, 145 N. Riverside Drive, S416 CPHB, Iowa City, IA, 52242, USA.
Marilyn L BrowneCongenital Malformations Registry, New York State Department of Health, Empire State Plaza-Corning Tower, Albany, NY, 12237, USA.
Michele CagganaWadsworth Center, New York State Department of Health, 120 New Scotland Avenue, Albany, NY, 12201-2002, USA.
Lawrence C BrodyGenome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Building 50, 50 South Drive, MSC 8004, Bethesda, MD, 20892, USA.
Gary M ShawDepartment of Pediatrics, Stanford University School of Medicine, Medical Office Building, 1265 Welch Road Room X159, Stanford, CA, 94305, USA.
Laura L Jelliffe-PawlowskiDepartment of Epidemiology and Biostatistics, University of California San Francisco School of Medicine, 550 16th Street, San Francisco, CA, 94158, USA.
James L MillsDivision of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 6100 Executive Boulevard, Bethesda, MD, 20892, USA. jamesmills@nih.gov.
Eunice Kennedy Shriver National Institute of Child Health and Human Development · USWadsworth Center · USCalifornia Department of Public Health · USNational Human Genome Research Institute · USNational Institutes of Health · USNew York State Department of Health · USStanford University · USUniversity of California, San Francisco · USUniversity of Iowa · US

Funding

The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
Genetic Factors in Birth DefectsZIAHD008792 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2023
$5.0M
Chromosomal microdeletions causing heart defectsR01HL092330 · NHLBI · CHILDREN'S HOSPITAL & RES CTR AT OAKLAND · PI KING, JANET C · 2009 to 2014
$3.6M
Iowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureSU01DD001035 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2013 to 2017
$3.5M
California Center of BD-STEPS - Finding Causes and Preventives of Birth DefectsU01DD001033 · DD · STANFORD UNIVERSITY · PI CARMICHAEL, SUZAN L, SHAW, GARY M · 2013 to 2017
$3.4M
NICHD-California Birth Defects StudyZIAHD008951 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2015 to 2023
$2.1M
Genetic Factors in Birth DefectsZ01HD008792 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2007 to 2008
$1.1M
ACL HHS U01DD001033Intramural NIH HHS Z01 HD008792NCBDD CDC HHS U01 DD001033NCBDD CDC HHS U01 DD001035NHLBI NIH HHS R01 HL092330NICHD NIH HHS HHSN275201100001CNICHD NIH HHS HHSN275201100001GNICHD NIH HHS HHSN275201100001INICHD NIH HHS N01 DK073431
6 · The paper itself

Abstract

Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were identified using the PennCNV software. We identified 56 rare CNVs encompassing genes in the NODAL (NIPBL, TBX6), BMP (PPP4C), and WNT (FZD3) signaling pathways, not previously linked to classic heterotaxy. We also identified a CNV involving FGF12, a gene previously noted in a classic heterotaxy case. CNVs involving RBFOX1 and near MIR302F were detected in multiple cases. Our findings illustrate the importance of body patterning pathways for cardiac development and left/right axes determination. FGF12, RBFOX1, and MIR302F could be important in human heterotaxy, because they were noted in multiple cases. Further investigation into genes involved in the NODAL, BMP, and WNT body patterning pathways and into the dosage effects of FGF12, RBFOX1, and MIR302F is warranted.

Indexed as

Body PatterningDNA Copy Number VariationsFemaleFibroblast Growth FactorsGenotypeHeart Defects, CongenitalHeterotaxy SyndromeHumansInfantMaleMicroRNAsPolymorphism, Single NucleotideRNA Splicing FactorsSignal TransductionFGF12 protein, humanFibroblast Growth FactorsMicroRNAsRBFOX1 protein, humanRNA Splicing Factors

Identifiers

PMID27637763
PMCPMC5065782
OpenAlexW2519394124

What OpenQuestion holds

Textmetadata
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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.