In one paragraphArticle in Circulation. Genomic and precision medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
25 authors.
Seong Won Kim *Department of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0001-5150-7571 Michael Parfenov *Department of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).
Laura Rodriguez-MurilloDepartment of Genetics & Genomic Sciences, Mindich Child Health & Development Inst, Icahn School of Medicine at Mount Sinai, New York, NY (L.R.-M., I.P., B.D.G.).
David A ConnerDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0001-9131-3878 Arun SharmaDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0002-0607-5455 Inga PeterDepartment of Genetics & Genomic Sciences, Mindich Child Health & Development Inst, Icahn School of Medicine at Mount Sinai, New York, NY (L.R.-M., I.P., B.D.G.).ORCID 0000-0002-5638-9137 Feng XiaoDepartment of Cardiology, Boston Children's Hospital, Ann Romney Ctr for Neurologic Diseases, Brigham & Women's Hospital, Harvard University, MA (F.X., W.T.P.).ORCID 0000-0002-9084-9328 Olivia LaytonDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0009-0001-7476-9117 Angela TaiDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).
Tarsha WardDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0003-3740-3797 Lauren K WassonDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0002-5193-5215 Joshua M GorhamDepartment of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0001-5969-4690 Erica MazaikaDivision of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA (E.M.).ORCID 0000-0002-6131-9336 Valentina N LagomarsinoAnn Romney Ctr for Neurologic Diseases, Brigham & Women's Hospital, Harvard University, Boston, MA (V.N.L., T.L.Y.-P.).ORCID 0000-0003-3195-1899 Tracy L Young-PearseDepartment of Cardiology, Boston Children's Hospital, Ann Romney Ctr for Neurologic Diseases, Brigham & Women's Hospital, Harvard University, MA (F.X., W.T.P.).ORCID 0000-0001-7846-1542 A J AgopianDepartment of Epidemiology, Human Genetics Ctr, University of Texas Health Science Ctr at Houston (UTHealth) School of Public Health, Houston (A.J.A.).ORCID 0000-0002-5874-4155 William T PuDepartment of Cardiology, Boston Children's Hospital, Ann Romney Ctr for Neurologic Diseases, Brigham & Women's Hospital, Harvard University, MA (F.X., W.T.P.).ORCID 0000-0002-4551-8079 Christine E Seidman *Department of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0001-6380-1209 Bruce D Gelb *Department of Genetics & Genomic Sciences, Mindich Child Health & Development Inst, Icahn School of Medicine at Mount Sinai, New York, NY (L.R.-M., I.P., B.D.G.).ORCID 0000-0001-8527-5027 Jonathan G Seidman *Department of Genetics, Harvard Medical School, Boston, MA (S.W.K., M.P., D.A.C., A.S., O.L., A.T., T.W., L.K.W., J.M.G., E.M., H.W., D.M.M.K., D.P., C.E. Seidman, J.G. Seidman).ORCID 0000-0002-9082-3566 PCGC Investigators
Funding
MULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MGenomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7MThe Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3MMolecular Causes of Down Syndrome Associated Congenital Heart Disease and Other PhenotypesR01HL151257 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2019 to 2019
$3.7MIn vivo Characterization of Regulatory Variant Pathogenicity in Congenital Heart DiseaseR01HL162304 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI PENNACCHIO, LEN ALEXANDER, VISEL, AXEL · 2022 to 2025
$3.0MIdentifying unrecognized genetic causes of congenital heart diseaseR01HL162356 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI William Tswenching Pu, CHRISTINE E SEIDMAN · 2024 to 2026
$2.3MNHLBI NIH HHS R01 HL151257NHLBI NIH HHS R01 HL162304NHLBI NIH HHS R01 HL162356NHLBI NIH HHS T32 HL007208NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153
6 · The paper itselfAbstract
backgroundAtrial septal defects (ASDs) are a prevalent type of congenital heart disease. Previous GWAS (Genome-Wide Association Studies) have identified common variants associated with ASDs, though their mechanisms remain unknown. We aimed to expand insights into the architecture of common variants associated with ASD risk and elucidate functional mechanisms.
methodsWe conducted a GWAS using isolated ASD cases and healthy controls and replicated findings in an independent cohort. We examined epigenetic marks within this ASD locus in human induced pluripotent stem cell-derived cardiomyocytes and fetal human hearts. We characterized the consequences of deletions introduced by CRISPR-Cas9 mutagenesis of human induced pluripotent stem cells to assess the effect on downstream gene expression. In addition, we investigated the 3-dimensional genome architecture of the locus using chromosome conformation capture sequencing.
resultsWe identified a novel ASD locus on chromosome 3p12.3 encompassing the
conclusionsNovel common single nucleotide polymorphisms in regulatory elements controlling
Indexed as
Heart Septal Defects, AtrialReceptors, ImmunologicCCCTC-Binding FactorChromosomes, Human, Pair 3FemaleGenome-Wide Association StudyHumansInduced Pluripotent Stem CellsMyocytes, CardiacPolymorphism, Single NucleotideRoundabout ProteinsCCCTC-Binding FactorCTCF protein, humanReceptors, ImmunologicROBO2 protein, humanRoundabout Proteinsbinding siteschromosomesgene expressionheart defects, congenital
Identifiers
PMID41693552
PMCPMC13034621
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390