Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network

Sadiya S. Khan; Christin Hoell; Lisa M. Castillo; John J. Connolly; David R. Crosslin; Wendy K. Chung; Adam S. Gordon; Margaret Harr; Gail P. Jarvik; Iftikhar Kullo; Eric B. Larson; Kathleen A. Leppig; Teri Manolio; Jennifer A. Pacheco; James D. Ralston; Megan J. Puckelwartz; Maureen E. Smith; Quinn Wells; Elizabeth M. McNally; Laura J. Rasmussen-Torvik

doi:10.1161/CIRCHEARTFAILURE.120.008155

Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network

Sadiya S. Khan^*, Christin Hoell, Lisa M. Castillo, John J. Connolly, David R. Crosslin, Wendy K. Chung, Adam S. Gordon, Margaret Harr, Gail P. Jarvik, Iftikhar Kullo, Eric B. Larson, Kathleen A. Leppig, Teri Manolio, Jennifer A. Pacheco, James D. Ralston, Megan J. Puckelwartz, Maureen E. Smith, Quinn Wells, Elizabeth M. McNally, Laura J. Rasmussen-Torvik

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Original language	English (US)
Pages (from-to)	E008155
Journal	Circulation: Heart Failure
Volume	14
Issue number	5
DOIs	https://doi.org/10.1161/CIRCHEARTFAILURE.120.008155
State	Published - May 1 2021

Funding

The research reported in this publication was supported, in part, by the National Institutes of Health’s National Center for Advancing Translational Sciences, Grant Number KL2TR001424 (Dr Khan). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Electronic Medical Records and Genomics (eMERGE) Phase III Network was initiated and funded by National Human Genome Research Institute Home through the following grants: U01HG8657 (Kaiser Permanente Washington/University of Washington); U01HG8685 (Brigham and Women’s Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8666 (Cincinnati Children’s Hospital Medical Center); U01HG6379 (Mayo Clinic); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children’s Hospital of Philadelphia); U01HG8673 (Northwestern University); MD007593 (Meharry Medical College); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG8676 (Partners Healthcare/Broad Institute); and U01HG8664 (Baylor College of Medicine). HL128075 (Northwestern University); and American Heart Association 189CDA34110460 (Northwestern University).

Keywords

cardiomyopathies
diagnosis
genetics
medical records
population

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

Access to Document

10.1161/CIRCHEARTFAILURE.120.008155

Cite this

Khan, S. S., Hoell, C., Castillo, L. M., Connolly, J. J., Crosslin, D. R., Chung, W. K., Gordon, A. S., Harr, M., Jarvik, G. P., Kullo, I., Larson, E. B., Leppig, K. A., Manolio, T., Pacheco, J. A., Ralston, J. D., Puckelwartz, M. J., Smith, M. E., Wells, Q., McNally, E. M., & Rasmussen-Torvik, L. J. (2021). Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. Circulation: Heart Failure, 14(5), E008155. https://doi.org/10.1161/CIRCHEARTFAILURE.120.008155

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title = "Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network",

keywords = "cardiomyopathies, diagnosis, genetics, medical records, population",

author = "Khan, {Sadiya S.} and Christin Hoell and Castillo, {Lisa M.} and Connolly, {John J.} and Crosslin, {David R.} and Chung, {Wendy K.} and Gordon, {Adam S.} and Margaret Harr and Jarvik, {Gail P.} and Iftikhar Kullo and Larson, {Eric B.} and Leppig, {Kathleen A.} and Teri Manolio and Pacheco, {Jennifer A.} and Ralston, {James D.} and Puckelwartz, {Megan J.} and Smith, {Maureen E.} and Quinn Wells and McNally, {Elizabeth M.} and Rasmussen-Torvik, {Laura J.}",

note = "Funding Information: The research reported in this publication was supported, in part, by the National Institutes of Health{\textquoteright}s National Center for Advancing Translational Sciences, Grant Number KL2TR001424 (Dr Khan). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Electronic Medical Records and Genomics (eMERGE) Phase III Network was initiated and funded by National Human Genome Research Institute Home through the following grants: U01HG8657 (Kaiser Permanente Washington/University of Washington); U01HG8685 (Brigham and Women{\textquoteright}s Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8666 (Cincinnati Children{\textquoteright}s Hospital Medical Center); U01HG6379 (Mayo Clinic); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children{\textquoteright}s Hospital of Philadelphia); U01HG8673 (Northwestern University); MD007593 (Meharry Medical College); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG8676 (Partners Healthcare/Broad Institute); and U01HG8664 (Baylor College of Medicine). HL128075 (Northwestern University); and American Heart Association 189CDA34110460 (Northwestern University).",

year = "2021",

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Khan, SS , Hoell, C , Castillo, LM, Connolly, JJ, Crosslin, DR, Chung, WK, Gordon, AS, Harr, M, Jarvik, GP, Kullo, I, Larson, EB, Leppig, KA, Manolio, T, Pacheco, JA, Ralston, JD, Puckelwartz, MJ , Smith, ME, Wells, Q, McNally, EM & Rasmussen-Torvik, LJ 2021, 'Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network', Circulation: Heart Failure, vol. 14, no. 5, pp. E008155. https://doi.org/10.1161/CIRCHEARTFAILURE.120.008155

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T1 - Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network

AU - Khan, Sadiya S.

AU - Hoell, Christin

AU - Castillo, Lisa M.

AU - Connolly, John J.

AU - Crosslin, David R.

AU - Chung, Wendy K.

AU - Gordon, Adam S.

AU - Harr, Margaret

AU - Jarvik, Gail P.

AU - Kullo, Iftikhar

AU - Larson, Eric B.

AU - Leppig, Kathleen A.

AU - Manolio, Teri

AU - Pacheco, Jennifer A.

AU - Ralston, James D.

AU - Puckelwartz, Megan J.

AU - Smith, Maureen E.

AU - Wells, Quinn

AU - McNally, Elizabeth M.

AU - Rasmussen-Torvik, Laura J.

N1 - Funding Information: The research reported in this publication was supported, in part, by the National Institutes of Health’s National Center for Advancing Translational Sciences, Grant Number KL2TR001424 (Dr Khan). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Electronic Medical Records and Genomics (eMERGE) Phase III Network was initiated and funded by National Human Genome Research Institute Home through the following grants: U01HG8657 (Kaiser Permanente Washington/University of Washington); U01HG8685 (Brigham and Women’s Hospital); U01HG8672 (Vanderbilt University Medical Center); U01HG8666 (Cincinnati Children’s Hospital Medical Center); U01HG6379 (Mayo Clinic); U01HG8679 (Geisinger Clinic); U01HG8680 (Columbia University Health Sciences); U01HG8684 (Children’s Hospital of Philadelphia); U01HG8673 (Northwestern University); MD007593 (Meharry Medical College); U01HG8701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG8676 (Partners Healthcare/Broad Institute); and U01HG8664 (Baylor College of Medicine). HL128075 (Northwestern University); and American Heart Association 189CDA34110460 (Northwestern University).

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KW - diagnosis

KW - genetics

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Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network

Funding

Keywords

ASJC Scopus subject areas

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