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Page 1
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: geraghty e. Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12. Neurology. 2014. PMID: 24623842 Free PMC article.
Rare copy number variants are an important cause of epileptic encephalopathies.
Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, Eeg-Olofsson O, Sadleir LG, Gill D, Ben-Zeev B, Lerman-Sagie T, Mackay M, Freeman JL, Andermann E, Pelakanos JT, Andrews I, Wallace G, Eichler EE, Berkovic SF, Scheffer IE. Mefford HC, et al. Among authors: geraghty e. Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645. Ann Neurol. 2011. PMID: 22190369 Free PMC article.
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: geraghty e. Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933818 Free PMC article.
Return-to-Play Outcomes in Elite Athletes After Cervical and Lumbar Motion Preservation Spine Surgery: A Systematic Review.
Reyes JL, Geraghty E, Coury JR, Arvind V, Luzzi AJ, Mastroianni MA, Morrissette CR, Obana KO, Trofa DP, Ahmad CS, Sardar ZM, Lehman RA, Lombardi JM. Reyes JL, et al. Among authors: geraghty e. Spine (Phila Pa 1976). 2025 Jan 15;50(2):122-128. doi: 10.1097/BRS.0000000000005164. Epub 2024 Sep 27. Spine (Phila Pa 1976). 2025. PMID: 39328182
Patient Perception of Social Media Use by Orthopaedic Surgeons: A Pilot Study.
Johnson AJ, Wharton BR, Geraghty EH, Bradsell H, Ishikawa A, McCarty EC, Bravman JT, Frank RM. Johnson AJ, et al. Among authors: geraghty eh. Orthop J Sports Med. 2024 Mar 7;12(3):23259671241232707. doi: 10.1177/23259671241232707. eCollection 2024 Mar. Orthop J Sports Med. 2024. PMID: 38465258 Free PMC article.
51 results