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Page 1
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: hodge k. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Let's Talk Tech: Friend or Foe?
Hodge KS. Hodge KS. Clin Nurse Spec. 2025 Jan-Feb 01;39(1):1-2. doi: 10.1097/NUR.0000000000000876. Clin Nurse Spec. 2025. PMID: 39652654 No abstract available.
IOC consensus statement: interpersonal violence and safeguarding in sport.
Tuakli-Wosornu YA, Burrows K, Fasting K, Hartill M, Hodge K, Kaufman K, Kavanagh E, Kirby SL, MacLeod JG, Mountjoy M, Parent S, Tak M, Vertommen T, Rhind DJA. Tuakli-Wosornu YA, et al. Among authors: hodge k. Br J Sports Med. 2024 Nov 28;58(22):1322-1344. doi: 10.1136/bjsports-2024-108766. Br J Sports Med. 2024. PMID: 39586634
Variant-to-function mapping of late-onset Alzheimer's disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus.
Burton EA, Argenziano M, Cook K, Ridler M, Lu S, Su C, Manduchi E, Littleton SH, Leonard ME, Hodge KM, Wang LS, Schellenberg GD, Johnson ME, Pahl MC, Pippin JA, Wells AD, Anderson SA, Brown CD, Grant SFA, Chesi A. Burton EA, et al. Among authors: hodge km. bioRxiv [Preprint]. 2024 Aug 22:2024.08.22.609230. doi: 10.1101/2024.08.22.609230. bioRxiv. 2024. PMID: 39229212 Free PMC article. Preprint.
Epigenetic associations with neonatal age in infants born very preterm, particularly among genes involved in neurodevelopment.
Hodge KM, Burt AA, Camerota M, Carter BS, Check J, Conneely KN, Helderman J, Hofheimer JA, Hüls A, McGowan EC, Neal CR, Pastyrnak SL, Smith LM, DellaGrotta SA, Dansereau LM, O'Shea TM, Marsit CJ, Lester BM, Everson TM. Hodge KM, et al. Sci Rep. 2024 Aug 5;14(1):18147. doi: 10.1038/s41598-024-68071-w. Sci Rep. 2024. PMID: 39103365 Free PMC article.
A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
NIHR Global Health Research Unit on Global Surgery; STARSurg Collaborative. NIHR Global Health Research Unit on Global Surgery, et al. Lancet Digit Health. 2024 Jul;6(7):e507-e519. doi: 10.1016/S2589-7500(24)00065-7. Lancet Digit Health. 2024. PMID: 38906616 Free article.
231 results