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Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.

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Title: Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.
Authors: Yamamoto Y; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Chua K; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Staudt D; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Pediatrics, Stanford School of Medicine, Palo Alto, CA. (D.S., B.J.F.)., Ferrasse A; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Kirillova A; Medical Scientist Training Program, University of Pittsburgh, PA (A.K.)., De Jong HN; Department of Genetics, Stanford School of Medicine, Palo Alto, CA. (H.N.D.J., J.E.G.)., Floyd BJ; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Pediatrics, Stanford School of Medicine, Palo Alto, CA. (D.S., B.J.F.)., Cadisch C; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; ETH Zurich, Switzerland (C.C.)., Wiel L; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Wang Q; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; School of Biomedical Engineering, Shanghai Jiao Tong University, China (Q.W.)., O'Neill MJ; Brigham and Women's Hospital, HMS, Boston, MA (M.J.O., C.A.M.)., Tabet D; Donnelly Centre and Department of Molecular Genetics, University of Toronto, ON, Canada (D.T., F.P.R.)., Goryznski JE; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Genetics, Stanford School of Medicine, Palo Alto, CA. (H.N.D.J., J.E.G.)., Huang Y; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Bai F; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Wilson RH; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Sharma A; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Tapales A; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; University of Vermont, Larner College of Medicine, Burlington (A.T.)., Agrawal R; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Wheeler MT; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Mercola M; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Medicine, Department of Chemical and Systems Biology, and Cardiovascular Institute, Stanford University, Palo Alto, CA (M.M.)., MacRae CA; Brigham and Women's Hospital, HMS, Boston, MA (M.J.O., C.A.M.)., Roden DM; Department of Medicine, Division of Genomic Medicine and Clinical Pharmacology (D.M.R., A.M.G.), Vanderbilt University Medical Center, Nashville, TN.; Department of Pharmacology (D.M.R.), Vanderbilt University Medical Center, Nashville, TN.; Department of Biomedical Informatics (D.M.R.), Vanderbilt University Medical Center, Nashville, TN., Roth FP; Donnelly Centre and Department of Molecular Genetics, University of Toronto, ON, Canada (D.T., F.P.R.).; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine; PA (F.P.R.)., Glazer AM; Department of Medicine, Division of Genomic Medicine and Clinical Pharmacology (D.M.R., A.M.G.), Vanderbilt University Medical Center, Nashville, TN., Ashley EA; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA., Parikh VN; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.
Source: Circulation [Circulation] 2026 Jul 12. Date of Electronic Publication: 2026 Jul 12.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0147763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4539 (Electronic) Linking ISSN: 00097322 NLM ISO Abbreviation: Circulation Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.
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  Data: <searchLink fieldCode="AU" term="%22Yamamoto+Y%22">Yamamoto Y</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Chua+K%22">Chua K</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Staudt+D%22">Staudt D</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Pediatrics, Stanford School of Medicine, Palo Alto, CA. (D.S., B.J.F.).<br /><searchLink fieldCode="AU" term="%22Ferrasse+A%22">Ferrasse A</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Kirillova+A%22">Kirillova A</searchLink>; Medical Scientist Training Program, University of Pittsburgh, PA (A.K.).<br /><searchLink fieldCode="AU" term="%22De+Jong+HN%22">De Jong HN</searchLink>; Department of Genetics, Stanford School of Medicine, Palo Alto, CA. (H.N.D.J., J.E.G.).<br /><searchLink fieldCode="AU" term="%22Floyd+BJ%22">Floyd BJ</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Pediatrics, Stanford School of Medicine, Palo Alto, CA. (D.S., B.J.F.).<br /><searchLink fieldCode="AU" term="%22Cadisch+C%22">Cadisch C</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; ETH Zurich, Switzerland (C.C.).<br /><searchLink fieldCode="AU" term="%22Wiel+L%22">Wiel L</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Wang+Q%22">Wang Q</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; School of Biomedical Engineering, Shanghai Jiao Tong University, China (Q.W.).<br /><searchLink fieldCode="AU" term="%22O'Neill+MJ%22">O'Neill MJ</searchLink>; Brigham and Women's Hospital, HMS, Boston, MA (M.J.O., C.A.M.).<br /><searchLink fieldCode="AU" term="%22Tabet+D%22">Tabet D</searchLink>; Donnelly Centre and Department of Molecular Genetics, University of Toronto, ON, Canada (D.T., F.P.R.).<br /><searchLink fieldCode="AU" term="%22Goryznski+JE%22">Goryznski JE</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Genetics, Stanford School of Medicine, Palo Alto, CA. (H.N.D.J., J.E.G.).<br /><searchLink fieldCode="AU" term="%22Huang+Y%22">Huang Y</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Bai+F%22">Bai F</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Wilson+RH%22">Wilson RH</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Sharma+A%22">Sharma A</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Tapales+A%22">Tapales A</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; University of Vermont, Larner College of Medicine, Burlington (A.T.).<br /><searchLink fieldCode="AU" term="%22Agrawal+R%22">Agrawal R</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Wheeler+MT%22">Wheeler MT</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Mercola+M%22">Mercola M</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.; Department of Medicine, Department of Chemical and Systems Biology, and Cardiovascular Institute, Stanford University, Palo Alto, CA (M.M.).<br /><searchLink fieldCode="AU" term="%22MacRae+CA%22">MacRae CA</searchLink>; Brigham and Women's Hospital, HMS, Boston, MA (M.J.O., C.A.M.).<br /><searchLink fieldCode="AU" term="%22Roden+DM%22">Roden DM</searchLink>; Department of Medicine, Division of Genomic Medicine and Clinical Pharmacology (D.M.R., A.M.G.), Vanderbilt University Medical Center, Nashville, TN.; Department of Pharmacology (D.M.R.), Vanderbilt University Medical Center, Nashville, TN.; Department of Biomedical Informatics (D.M.R.), Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Roth+FP%22">Roth FP</searchLink>; Donnelly Centre and Department of Molecular Genetics, University of Toronto, ON, Canada (D.T., F.P.R.).; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine; PA (F.P.R.).<br /><searchLink fieldCode="AU" term="%22Glazer+AM%22">Glazer AM</searchLink>; Department of Medicine, Division of Genomic Medicine and Clinical Pharmacology (D.M.R., A.M.G.), Vanderbilt University Medical Center, Nashville, TN.<br /><searchLink fieldCode="AU" term="%22Ashley+EA%22">Ashley EA</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.<br /><searchLink fieldCode="AU" term="%22Parikh+VN%22">Parikh VN</searchLink>; Stanford Center for Inherited Cardiovascular Disease, Department of Medicine, Division of Cardiovascular Medicine, (Y.Y., K.C., D.S., A.F., B.J.F., C.C., L.W., Q.W., J.E.G., Y.H., F.B., R.H.W., A.S., A.T., R.A., M.T.W., M.M., E.A.A., V.N.P.), Stanford School of Medicine, Palo Alto, CA.
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            NameFull: Agrawal R
      – PersonEntity:
          Name:
            NameFull: Wheeler MT
      – PersonEntity:
          Name:
            NameFull: Mercola M
      – PersonEntity:
          Name:
            NameFull: MacRae CA
      – PersonEntity:
          Name:
            NameFull: Roden DM
      – PersonEntity:
          Name:
            NameFull: Roth FP
      – PersonEntity:
          Name:
            NameFull: Glazer AM
      – PersonEntity:
          Name:
            NameFull: Ashley EA
      – PersonEntity:
          Name:
            NameFull: Parikh VN
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 12
              M: 07
              Text: 2026 Jul 12
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1524-4539
          Titles:
            – TitleFull: Circulation
              Type: main
ResultId 1