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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: slopis jm. 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.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Piotrowski A, et al. Among authors: slopis jm. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362817 Free PMC article.
Creation of an international registry to support discovery in schwannomatosis.
Ostrow KL, Bergner AL, Blakeley J, Evans DG, Ferner R, Friedman JM, Harris GJ, Jordan JT, Korf B, Langmead S, Leschziner G, Mautner V, Merker VL, Papi L, Plotkin SR, Slopis JM, Smith MJ, Stemmer-Rachamimov A, Yohay K, Belzberg AJ. Ostrow KL, et al. Among authors: slopis jm. Am J Med Genet A. 2017 Feb;173(2):407-413. doi: 10.1002/ajmg.a.38024. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759912
The molecular landscape of glioma in patients with Neurofibromatosis 1.
D'Angelo F, Ceccarelli M, Tala, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Kamiya-Matsuoka C, Lavarino C, Loiseau H, Lorgis V, Marras CE, McCutcheon I, Nam DH, Ronchi S, Saletti V, Seizeur R, Slopis J, Suñol M, Vandenbos F, Varlet P, Vidaud D, Watts C, Tabar V, Reuss DE, Kim SK, Meyronet D, Mokhtari K, Salvador H, Bhat KP, Eoli M, Sanson M, Lasorella A, Iavarone A. D'Angelo F, et al. Nat Med. 2019 Jan;25(1):176-187. doi: 10.1038/s41591-018-0263-8. Epub 2018 Dec 10. Nat Med. 2019. PMID: 30531922 Free PMC article.
Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020.
Landry JP, Schertz KL, Chiang YJ, Bhalla AD, Yi M, Keung EZ, Scally CP, Feig BW, Hunt KK, Roland CL, Guadagnolo A, Bishop AJ, Lazar AJ, Slopis JM, McCutcheon IE, Torres KE. Landry JP, et al. Among authors: slopis jm. JAMA Netw Open. 2021 Mar 1;4(3):e210945. doi: 10.1001/jamanetworkopen.2021.0945. JAMA Netw Open. 2021. PMID: 33734413 Free PMC article.
67 results