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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Farwell Hagman KD, et al. Genet Med. 2017 Feb;19(2):224-235. doi: 10.1038/gim.2016.95. Epub 2016 Aug 11. Genet Med. 2017. PMID: 27513193 Free PMC article.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang S. Farwell Hagman KD, et al. Genet Med. 2018 Sep;20(9):1099-1102. doi: 10.1038/gim.2017.263. Genet Med. 2018. PMID: 29388939 Free PMC article.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. Drivas TG, et al. Among authors: smith ed. Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483341 Free PMC article.
Using a chat-based informed consent tool in large-scale genomic research.
Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E. Savage SK, et al. Among authors: smith ed. J Am Med Inform Assoc. 2024 Jan 18;31(2):472-478. doi: 10.1093/jamia/ocad181. J Am Med Inform Assoc. 2024. PMID: 37665746 Free PMC article.
How strong is the rhythm of perception? A registered replication of Hickok et al. (2015).
Henry MJ, Obleser J, Crusey MR, Fuller ER, Lee YS, Meyer M, Acosta EAM, Van Hedger SC, Inbar M, Oderbolz C, Dunham SA, Anankul Y, Sabo LE, Keitel C, Maddox RK, Mehl K, Aslan G, Martens PA, Sauppe S, Horovitz M, Kinghorn EE, Koukouvinis S, Bosker HR, Huviyetli M, Leung C, Symons AE, Strauß A, Chait M, Hu M, Eulitz C, Salagovic CA, Davis C, Severijnen GGA, Kosachenko AI, Alain C, Kim J, Grahn JA, Sidhu RK, Megighian C, Butler BE, Sears DRW, Herrmann B, Griffiths ML, Landau AN, Razin R, Grassi M, Levitsky A, Holt LL, Belfi AM, Stewart HJ, Shinn-Cunningham BG, Gomez C, Brookes F, Smith ED, Axler E, Bakardjian K, Hochstrasser D, Guiotto Nai Fovino L, Tune S, Pavlov YG, Lee KA, Xavier AG, Keitel A, Rogers CS, Maltseva A, Strauss JL, Lodol FF, Arsiwala N, Peelle JE. Henry MJ, et al. Among authors: smith ed. R Soc Open Sci. 2025 Jun 11;12(6):220497. doi: 10.1098/rsos.220497. eCollection 2025 Jun. R Soc Open Sci. 2025. PMID: 40503249 Free PMC article.
262 results