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Year Number of Results
2008 1
2009 1
2012 1
2013 2
2014 3
2015 1
2018 4
2019 2
2020 5
2021 7
2022 5
2023 5
2024 1

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28 results

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Page 1
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
SoRelle JA, Funke BH, Eno CC, Ji J, Santani A, Bayrak-Toydemir P, Wachsmann M, Wain KE, Mao R. SoRelle JA, et al. Among authors: wain ke. J Mol Diagn. 2024 Mar;26(3):159-167. doi: 10.1016/j.jmoldx.2023.11.008. Epub 2023 Dec 14. J Mol Diagn. 2024. PMID: 38103592 Review.
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Hallquist MLG, Borensztein MJ, Coughlin CR 2nd, Buchanan AH, Andrew Faucett W, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Ormond KE. Hallquist MLG, et al. Among authors: wain ke. Eur J Hum Genet. 2023 Oct;31(10):1165-1174. doi: 10.1038/s41431-023-01401-0. Epub 2023 Jun 12. Eur J Hum Genet. 2023. PMID: 37308598
Defining the Critical Components of Informed Consent for Genetic Testing.
Ormond KE, Borensztein MJ, Hallquist MLG, Buchanan AH, Faucett WA, Peay HL, Smith ME, Tricou EP, Uhlmann WR, Wain KE, Coughlin CR 2nd, On Behalf Of The Clinical Genome CADRe Workgroup. Ormond KE, et al. Among authors: wain ke. J Pers Med. 2021 Dec 5;11(12):1304. doi: 10.3390/jpm11121304. J Pers Med. 2021. PMID: 34945775 Free PMC article.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: wain ke. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: wain ke. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Application of a framework to guide genetic testing communication across clinical indications.
Hallquist MLG, Tricou EP, Ormond KE, Savatt JM, Coughlin CR 2nd, Faucett WA, Hercher L, Levy HP, O'Daniel JM, Peay HL, Stosic M, Smith M, Uhlmann WR, Wand H, Wain KE, Buchanan AH. Hallquist MLG, et al. Among authors: wain ke. Genome Med. 2021 Apr 29;13(1):71. doi: 10.1186/s13073-021-00887-x. Genome Med. 2021. PMID: 33926532 Free PMC article.
28 results