Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System.

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Title: Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System.
Authors: Samadder NJ; Division of Gastroenterology & Hepatology, Department of Medicine (N.J.S.), Mayo Clinic, Phoenix, AZ. Genetic Counseling program, Arizona State University, Tucson.; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN.; Comprehensive Cancer Center (N.J.S., J.M.S.-B., K.N.L.), Mayo Clinic, Rochester, MN., Schroeder M; Mayo Clinic Alix School of Medicine (M.S., K.N.L.), Mayo Clinic, Phoenix, AZ. Genetic Counseling program, Arizona State University, Tucson., Voss MM; Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ (M.M.V., K.L.K., M.A.G.)., Shamoun F; Department of Clinical Genomics and Department of Cardiovascular Medicine (F.S.), Mayo Clinic, Phoenix, AZ. Genetic Counseling program, Arizona State University, Tucson.; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Kullo I; Department of Cardiovascular Medicine (I.K.), Mayo Clinic, Rochester, MN., Curry TB; Department of Anesthesia (T.B.C.), Mayo Clinic, Rochester, MN., Houwink EJF; Department of Family Medicine (E.J.F.H.), Mayo Clinic, Rochester, MN., Bublitz ML; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Bandel LA; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Armasu SM; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Vierkant RA; Department of Quantitative Health Sciences (R.A.V.), Mayo Clinic, Rochester, MN., Ferber MJ; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN.; Department of Laboratory Medicine & Pathology (M.J.F., L.M.B.), Mayo Clinic, Rochester, MN., Olson R; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Tan-Arroyo J; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Morales-Rosado JA; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN.; Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, TN (J.A.M.-R.)., Klee EW; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Larson NB; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Kruisselbrink TM; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Egan JB; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Kemppainen JL; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Bidwell JS; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Anderson JL; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., McAllister TM; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN., Baudhuin LM; Department of Laboratory Medicine & Pathology (M.J.F., L.M.B.), Mayo Clinic, Rochester, MN., Kunze KL; Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ (M.M.V., K.L.K., M.A.G.)., Golafshar MA; Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ (M.M.V., K.L.K., M.A.G.)., Presutti RJ; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN.; Department of Family Medicine, Mayo Clinic, Jacksonville, FL (R.J.P.)., Summer-Bolster JM; Comprehensive Cancer Center (N.J.S., J.M.S.-B., K.N.L.), Mayo Clinic, Rochester, MN., Lazaridis KN; Mayo Clinic Alix School of Medicine (M.S., K.N.L.), Mayo Clinic, Phoenix, AZ. Genetic Counseling program, Arizona State University, Tucson.; Center for Individualized Medicine (N.J.S., F.S., M.L.B., L.A.B., S.M.A., M.J.F., R.O., J.T.-A., J.A.M.-R., E.W.K., N.B.L., T.M.K., J.B.E., J.L.K., J.S.B., J.L.A., T.M.M.A., R.J.P., K.N.L.), Mayo Clinic, Rochester, MN.; Comprehensive Cancer Center (N.J.S., J.M.S.-B., K.N.L.), Mayo Clinic, Rochester, MN.
Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2025 Dec; Vol. 18 (6), pp. e005174. Date of Electronic Publication: 2025 Nov 12.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2574-8300
DOI:10.1161/CIRCGEN.125.005174