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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH. Savatt JM, et al. Among authors: kirchner hl. BMC Pediatr. 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4. BMC Pediatr. 2020. PMID: 32414353 Free PMC article. Clinical Trial.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Dewey FE, et al. Among authors: kirchner hl. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Manickam K, et al. Among authors: kirchner hl. JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140. JAMA Netw Open. 2018. PMID: 30646163 Free PMC article.
Hidden Burden of Electronic Health Record-Identified Familial Hypercholesterolemia: Clinical Outcomes and Cost of Medical Care.
Patel P, Hu Y, Kolinovsky A, Geng Z, Ruhl J, Krishnamurthy S, deRichemond C, Khan A, Kirchner HL, Metpally R, Jones LK, Sturm AC, Carey D, Snyder S, Williams MS, Mehra VC. Patel P, et al. Among authors: kirchner hl. J Am Heart Assoc. 2019 Jul 2;8(13):e011822. doi: 10.1161/JAHA.118.011822. Epub 2019 Jun 29. J Am Heart Assoc. 2019. PMID: 31256702 Free PMC article.
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.
Carruth ED, Young W, Beer D, James CA, Calkins H, Jing L, Raghunath S, Hartzel DN, Leader JB, Kirchner HL, Smelser DT, Carey DJ, Kelly MA, Sturm AC, Alsaid A, Fornwalt BK, Haggerty CM. Carruth ED, et al. Among authors: kirchner hl. Circ Genom Precis Med. 2019 Nov;12(11):e002579. doi: 10.1161/CIRCGEN.119.002579. Epub 2019 Oct 22. Circ Genom Precis Med. 2019. PMID: 31638835 Free PMC article.
Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic.
Hallquist MLG, Tricou EP, Hallquist MN, Savatt JM, Rocha H, Evans AE, Deckard N, Hu Y, Kirchner HL, Pervola J, Rahm AK, Rashkin M, Schmidlen TJ, Schwartz MLB, Williams JL, Williams MS, Buchanan AH. Hallquist MLG, et al. Among authors: kirchner hl. Genet Med. 2020 Aug;22(8):1348-1354. doi: 10.1038/s41436-020-0797-2. Epub 2020 Apr 30. Genet Med. 2020. PMID: 32350418 Free article.
280 results