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Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery.
Shickh S, Hirjikaka D, Clausen M, Kodida R, Mighton C, Reble E, Sam J, Panchal S, Aronson M, Graham T, Armel SR, Glogowski E, Elser C, Eisen A, Carroll JC, Shuman C, Seto E, Baxter NN, Scheer A, Shastri-Estrada S, Feldman G, Thorpe KE, Schrader KA, Lerner-Ellis J, Kim RH, Faghfoury H, Bombard Y. Shickh S, et al. Among authors: sam j. BMJ Open. 2022 Apr 29;12(4):e060899. doi: 10.1136/bmjopen-2022-060899. BMJ Open. 2022. PMID: 35487723 Free PMC article.
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings.
Sam J, Reble E, Kodida R, Shaw A, Clausen M, Salazar MG, Shickh S, Mighton C, Carroll JC, Armel SR, Aronson M, Capo-Chichi JM, Cohn I, Eisen A, Elser C, Graham T, Ott K, Panchal S, Piccinin C, Schrader KA, Kim RH, Lerner-Ellis J, Bombard Y; Incidental Genomics Study Team. Sam J, et al. Hum Genet. 2022 Dec;141(12):1875-1885. doi: 10.1007/s00439-022-02466-5. Epub 2022 Jun 23. Hum Genet. 2022. PMID: 35739291
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. Among authors: sam j. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.
"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.
Shickh S, Mighton C, Clausen M, Kodida R, Adi-Wauran E, Hirjikaka D, Krishnapillai S, Reble E, Sam J, Baxter NN, Laupacis A, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: sam j. Genet Med. 2023 Dec;25(12):100960. doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11. Genet Med. 2023. PMID: 37577963 Free PMC article.
"I just wanted more": Hereditary cancer syndromes patients' perspectives on the utility of circulating tumour DNA testing for cancer screening.
Adi-Wauran E, Clausen M, Shickh S, Gagliardi AR, Denburg A, Oldfield LE, Sam J, Reble E, Krishnapillai S, Regier DA, Baxter NN, Dawson L, Penney LS, Foulkes W, Basik M, Sun S, Schrader KA, Karsan A, Pollett A, Pugh TJ; CHARM consortium; Kim RH, Bombard Y. Adi-Wauran E, et al. Among authors: sam j. Eur J Hum Genet. 2024 Feb;32(2):176-181. doi: 10.1038/s41431-023-01473-y. Epub 2023 Oct 11. Eur J Hum Genet. 2024. PMID: 37821757
"Should I Let Them Know I Have This?": Multifaceted Genetic Discrimination and Limited Awareness of Legal Protections among Individuals with Hereditary Cancer Syndromes.
Gopalakrishnan R, Sam J, Butkowsky C, Reble E, Clausen M, Rajeziesfahani S, Sparkes B, Aguda V, Aronson M, Bishop D, Dawson L, Eisen A, Graham T, Green J, Mighton C, Pauling J, Pavao C, Pechlivanoglou P, Remocker C, Savas S, Sun S, Tiano T, Tilley A, Schrader K, Etchegary H, Bombard Y. Gopalakrishnan R, et al. Among authors: sam j. Public Health Genomics. 2024;27(1):240-254. doi: 10.1159/000542210. Epub 2024 Oct 24. Public Health Genomics. 2024. PMID: 39447549 Free article.
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C, Kodida R, Shickh S, Clausen M, Reble E, Sam J, Grewal S, Hirjikaka D, Panchal S, Piccinin C, Aronson M, Ward T, Armel SR, Hofstedter R, Graham T, Mancuso T, Forster N, Capo-Chichi JM, Greenfeld E, Noor A, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowksi E, Schrader KA, Chan KKW, Thorpe KE, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: sam j. Genet Med. 2024 Nov 8:101323. doi: 10.1016/j.gim.2024.101323. Online ahead of print. Genet Med. 2024. PMID: 39530317
Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort Study.
Shickh S, Mighton C, Clausen M, Sam J, Hirjikaka D, Reble E, Graham T, Panchal S, Eisen A, Elser C, Schrader KA, Baxter NN, Laupacis A, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: sam j. JCO Precis Oncol. 2024 Dec;8:e2400407. doi: 10.1200/PO-24-00407. Epub 2024 Dec 12. JCO Precis Oncol. 2024. PMID: 39666930
Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.
Clausen M, Krishnapillai S, Hirjikaka D, Kodida R, Shickh S, Reble E, Mighton C, Sam J, Adi-Wauran E, Baxter NN, Feldman G, Glogowski E, Lerner-Ellis J, Scheer A, Shastri-Estrada S, Shuman C, Armel SR, Aronson M, Graham T, Panchal S, Thorpe KE, Carroll JC, Eisen A, Elser C, Kim RH, Faghfoury H, Schrader KA, Seto E, Bombard Y. Clausen M, et al. Among authors: sam j. Genet Med Open. 2024 Jan 23;2:101814. doi: 10.1016/j.gimo.2024.101814. eCollection 2024. Genet Med Open. 2024. PMID: 39669596 Free PMC article.
174 results