ArticleHuman molecular genetics2016
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.
Open access · bronzeAbstract read
In one paragraph
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% of its field
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.
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.
Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias.JAMA network open · 2022Pooled it
- Cardiac Organoids for Modeling Congenital Heart Disease: From Genetic Discovery to Therapeutic Screening.Current cardiology reports · 2026Review
- The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.Research square · 2026Article
- Age Differences in Aortic Stenosis.Reviews in cardiovascular medicine · 2025Review
- Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Recessive genetic contribution to congenital heart disease in 5,424 probands.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Case Report: A rare case of asymptomatic unroofed coronary sinus in a dog: diagnostic imaging and genetic findings.Frontiers in veterinary science · 2025Article
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India.BMC pediatrics · 2023Article
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2022Article
- A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.American journal of medical genetics. Part A · 2022Article
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.Circulation research · 2022Article
- Genomic frontiers in congenital heart disease.Nature reviews. Cardiology · 2022Review
- Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease.BMC genomic data · 2021Article
- Decoding Genetics of Congenital Heart Disease Using Patient-Derived Induced Pluripotent Stem Cells (iPSCs).Frontiers in cell and developmental biology · 2021Review
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- The genetics of isolated congenital heart disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Genome-wide association studies of structural birth defects: A review and commentary.Birth defects research · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
48 authors at 12 institutions in 3 countries.
Neil A HanchardDepartment of Molecular and Human Genetics, Department of Pediatrics.
Shanker SwaminathanDepartment of Molecular and Human Genetics, Department of Pediatrics.
Kristine BucasasDepartment of Molecular and Human Genetics, Center for Statistical Genetics.
Dieter FurthnerDepartment of Paediatrics, Children's Hospital, Linz, Austria.
Susan FernbachDepartment of Molecular and Human Genetics.
Mahshid S AzamianDepartment of Molecular and Human Genetics.
Xueqing WangDepartment of Molecular and Human Genetics.
Mark LewinDivision of Cardiology, Seattle Children's Hospital, Seattle, WA, USA.
Jeffrey A TowbinPediatric Cardiology, University of Tennessee Health Science Center, Memphis, TN, USA.
Lisa C A D'AlessandroDivision of Cardiology, Department of Pediatrics, and.
Shaine A MorrisDivision of Cardiology, Department of Pediatrics, and.
William DreyerDivision of Cardiology, Department of Pediatrics, and.
Susan DenfieldDivision of Cardiology, Department of Pediatrics, and.
Nancy A AyresDivision of Cardiology, Department of Pediatrics, and.
Wayne J FranklinDivision of Cardiology, Department of Pediatrics, and.
Henri JustinoDivision of Cardiology, Department of Pediatrics, and.
M Regina Lantin-HermosoDivision of Cardiology, Department of Pediatrics, and.
Elena C OcampoDivision of Cardiology, Department of Pediatrics, and.
Alexia B SantosDivision of Cardiology, Department of Pediatrics, and.
Dhaval ParekhDivision of Cardiology, Department of Pediatrics, and.
Douglas MoodieDivision of Cardiology, Department of Pediatrics, and.
Aamir JeewaDivision of Cardiology, Department of Pediatrics, and.
Emily LawrenceDivision of Cardiology, Department of Pediatrics, and.
Hugh D AllenDivision of Cardiology, Department of Pediatrics, and.
Daniel J PennyDivision of Cardiology, Department of Pediatrics, and.
Charles D FraserDepartment of Surgery, Baylor College of Medicine, Houston, TX, USA.
James R LupskiDepartment of Molecular and Human Genetics, Department of Pediatrics.
Mojisola PopoolaDepartment of Pediatrics.
Lalita WadhwaDepartment of Surgery, Baylor College of Medicine, Houston, TX, USA.
J David BrookSchool of Life Sciences, University of Nottingham, Nottingham, UK.
Frances A Bu'LockEast Midlands Congenital Heart Centre, Glenfield Hospital, Leicester, UK.
Shoumo BhattacharyaRadcliffe Department of Medicine, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Seema R LalaniDepartment of Molecular and Human Genetics.
Gloria A ZenderCenter for Cardiovascular and Pulmonary Research.
Sara M Fitzgerald-ButtDepartment of Pediatrics and Center for Cardiovascular and Pulmonary Research, The Heart Center, and.
Jessica BowmanDepartment of Pediatrics and The Heart Center, and.
Don CorsmeierDepartment of Pediatrics and Center for Microbial Pathogenesis, Nationwide Children's Hospital, Columbus, OH, USA.
Peter WhiteDepartment of Pediatrics and Center for Microbial Pathogenesis, Nationwide Children's Hospital, Columbus, OH, USA.
Kelsey LecerfCollege of Medicine, Ohio State University, Columbus, OH, USA.
Gladys ZapataDepartment of Molecular and Human Genetics, Department of Pediatrics.
Patricia HernandezDepartment of Molecular and Human Genetics, Department of Pediatrics.
Judith A GoodshipInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK and.
Vidu GargDepartment of Pediatrics and Center for Cardiovascular and Pulmonary Research, The Heart Center, and.
Bernard D KeavneyInstitute of Cardiovascular Sciences, The University of Manchester, Manchester, UK.
Suzanne M LealDepartment of Molecular and Human Genetics, Center for Statistical Genetics.
Heather J CordellInstitute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK and.
John W BelmontDepartment of Molecular and Human Genetics, Department of Pediatrics, kim.mcbride@nationwidechildrens.org jbelmont@bcm.edu.
Kim L McBrideDepartment of Pediatrics and Center for Cardiovascular and Pulmonary Research, kim.mcbride@nationwidechildrens.org jbelmont@bcm.edu.
Pediatrics and Genetics · USBaylor College of Medicine · USNationwide Children's Hospital · USNewcastle University · GBCentre for Human Genetics · GBGlenfield Hospital · GBSeattle Children's Hospital · USThe Ohio State University · USUniversity of Manchester · GBUniversity of Nottingham · GBUniversity of Tennessee Health Science Center · USWomen's General Hospital · AT
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MGENETIC STUDIES OF COMMON CONGENITAL HEART DEFECTSR01HD039056 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI BELMONT, JOHN WILLIAM · 2000 to 2004
$4.5MGenome Wide Association Study for Hypoplastic Left Heart and Related DefectsR01HL090506 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BELMONT, JOHN WILLIAM · 2008 to 2011
$3.0MExome sequencing and functional studies in familial CHDR01HL109758 · NHLBI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI GARG, VIDU, MCBRIDE, KIM LEWIS · 2012 to 2015
$2.7MNovel Genomic Disorders Causing Cardiovascular MalformationsR01HL091771 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BELMONT, JOHN WILLIAM · 2008 to 2011
$1.5MEvaluation of an Imaging Biomarker in Children and Young Adults with AortopathyK23HL127266 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI MORRIS, SHAINE ALAINE · 2015 to 2019
$761kExome Sequencing in Familial Cardiovascular MalformationsR21HL106549 · NHLBI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI MCBRIDE, KIM LEWIS · 2011 to 2012
$396kSTUDY OF OSCILLATORY GAS TRANSPORT MECHANISMSK08HL001310 · NHLBI · UNIVERSITY OF CALIFORNIA SAN DIEGO · PI KAPITAN, KENT S · 1985 to 1989
–British Heart Foundation PG/07/045/22690British Heart Foundation RG/07/010/23676British Heart Foundation RG/10/17/28553British Heart Foundation RG/13/10/30376British Heart Foundation RG/15/12/31616Doris Duke Charitable Foundation 2013096NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006542NHLBI NIH HHS K23 HL127266NHLBI NIH HHS R01 HL090506NHLBI NIH HHS R01 HL091771NHLBI NIH HHS R01 HL109758NHLBI NIH HHS R21 HL106549NICHD NIH HHS R01 HD039056NICHD NIH HHS U54 HD083092
Abstract
Congenital heart defects involving left-sided lesions (LSLs) are relatively common birth defects with substantial morbidity and mortality. Previous studies have suggested a high heritability with a complex genetic architecture, such that only a few LSL loci have been identified. We performed a genome-wide case-control association study to address the role of common variants using a discovery cohort of 778 cases and 2756 controls. We identified a genome-wide significant association mapping to a 200 kb region on chromosome 20q11 [P= 1.72 × 10
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyChromosome MappingChromosomes, Human, Pair 20Cohort StudiesFemaleGenotypeHeart Defects, CongenitalHeart VentriclesHumansMalePolymorphism, Single Nucleotide
Identifiers
What OpenQuestion holds
Textmetadata
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.