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Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. Among authors: bennett jt. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524
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
Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.
Piacitelli AM, Jensen DM, Brandling-Bennett H, Gray MM, Batra M, Gust J, Thaker A, Paschal C, Tsuchiya K, Pritchard CC, Perkins J, Mirzaa GM, Bennett JT. Piacitelli AM, et al. Among authors: bennett jt. Am J Med Genet A. 2018 Nov;176(11):2301-2308. doi: 10.1002/ajmg.a.40487. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063105 Free PMC article.
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.
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.
122 results