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124 results

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: bennett jt. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Dorschner MO, et al. Among authors: bennett rl, bennett jt. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055113 Free PMC article.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: bennett jt, bennett rl. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47. Ebrahimi-Fakhari D, et al. Among authors: bennett jt. Am J Med Genet A. 2018 Feb;176(2):311-318. doi: 10.1002/ajmg.a.38561. Epub 2017 Nov 28. Am J Med Genet A. 2018. PMID: 29193663
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Among authors: bennett jt. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT. Freed AS, et al. Among authors: bennett jt. J Pediatr. 2020 Nov;226:202-212.e1. doi: 10.1016/j.jpeds.2020.06.020. Epub 2020 Jun 15. J Pediatr. 2020. PMID: 32553838 Free PMC article.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Poskanzer SA, et al. Among authors: bennett jt. Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12. Am J Med Genet A. 2021. PMID: 33044030 Free PMC article.
124 results