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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2008 3
2009 4
2011 4
2012 5
2013 4
2014 2
2015 4
2016 3
2017 2
2018 12
2019 13
2020 13
2021 14
2022 15
2023 11
2024 4

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103 results

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Page 1
Development and utility of a clinical research informatics application for participant recruitment and workflow management for a return of results pilot trial in familial hypercholesterolemia in the Million Veteran Program.
Brunette CA, Yi T, Danowski ME, Cardellino M, Harrison A, Assimes TL, Knowles JW, Christensen KD, Sturm AC, Sun YV, Hui Q, Pyarajan S, Shi Y, Whitbourne SB, Gaziano JM, Muralidhar S, Vassy JL. Brunette CA, et al. Among authors: sturm ac. JAMIA Open. 2024 Mar 8;7(1):ooae020. doi: 10.1093/jamiaopen/ooae020. eCollection 2024 Apr. JAMIA Open. 2024. PMID: 38464744 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Among authors: sturm ac. Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. Genome Med. 2023. PMID: 37872640 Free PMC article.
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Yu KD, Betts MN, Urban GM, Schwartz MLB, Robinson TO, Moyer RJ, Taddonio SW, Vasudevan A, Johns A, Sturm AC, Kelly MA, Williams MS, Poler SM, Buchanan AH. Yu KD, et al. Among authors: sturm ac. Anesthesiology. 2024 Jan 1;140(1):52-61. doi: 10.1097/ALN.0000000000004786. Anesthesiology. 2024. PMID: 37787745 Free article.
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.
Gidding SS, Kirchner HL, Brangan A, Howard W, Kelly MA, Myers KD, Morgan KM, Oetjens MT, Shuey TC, Staszak D, Strande NT, Walters NL, Yu KD, Wilemon KA, Williams MS, Sturm AC, Jones LK. Gidding SS, et al. Among authors: sturm ac. J Am Heart Assoc. 2023 Jul 4;12(13):e030073. doi: 10.1161/JAHA.123.030073. Epub 2023 Jun 29. J Am Heart Assoc. 2023. PMID: 37382153 Free PMC article.
International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.
Watts GF, Gidding SS, Hegele RA, Raal FJ, Sturm AC, Jones LK, Sarkies MN, Al-Rasadi K, Blom DJ, Daccord M, de Ferranti SD, Folco E, Libby P, Mata P, Nawawi HM, Ramaswami U, Ray KK, Stefanutti C, Yamashita S, Pang J, Thompson GR, Santos RD. Watts GF, et al. Among authors: sturm ac. Nat Rev Cardiol. 2023 Dec;20(12):845-869. doi: 10.1038/s41569-023-00892-0. Epub 2023 Jun 15. Nat Rev Cardiol. 2023. PMID: 37322181 Review.
Facilitating family communication of familial hypercholesterolemia genetic risk: Assessing engagement with innovative chatbot technology from the IMPACT-FH study.
Walters NL, Lindsey-Mills ZT, Brangan A, Savage SK, Schmidlen TJ, Morgan KM, Tricou EP, Betts MM, Jones LK, Sturm AC, Campbell-Salome G. Walters NL, et al. Among authors: sturm ac. PEC Innov. 2023 Feb 4;2:100134. doi: 10.1016/j.pecinn.2023.100134. eCollection 2023 Dec. PEC Innov. 2023. PMID: 37214500 Free PMC article.
Designing implementation strategies to improve identification, cascade testing, and management of families with familial hypercholesterolemia: An intervention mapping approach.
Jones LK, Calvo EM, Campbell-Salome G, Walters NL, Brangan A, Rodriguez G, Ahmed CD, Morgan KM, Gidding SS, Williams MS, Brownson RC, Seaton TL, Goldberg AC, McGowan MP, Rahm AK, Sturm AC. Jones LK, et al. Among authors: sturm ac. Front Health Serv. 2023 Apr 28;3:1104311. doi: 10.3389/frhs.2023.1104311. eCollection 2023. Front Health Serv. 2023. PMID: 37188259 Free PMC article.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kochan DC, Anderson KC, Chung WK, Hebbring SJ, Salvati ZM, Sharp RR, Sturm AC, Gibbs RA, Rowley R, Venner E, Linder JE, Jones LK, Perez EF, Peterson JF, Jarvik GP, Rehm HL, Zouk H, Roden DM, Williams MS, Manolio TA, Kullo IJ. Dikilitas O, et al. Among authors: sturm ac. Circ Genom Precis Med. 2023 Apr;16(2):e003816. doi: 10.1161/CIRCGEN.122.003816. Epub 2023 Feb 22. Circ Genom Precis Med. 2023. PMID: 37071725 Free PMC article.
103 results