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Page 1
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: abhyankar ha. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.
Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Abhyankar H, Lim KP, Covington KR, Trevino L, Dewal N, Muzny DM, Doddapaneni H, Hu J, Wang L, Lupo PJ, Hicks MJ, Bonilla DL, Dwyer KC, Berres ML, Poulikakos PI, Merad M, McClain KL, Wheeler DA, Allen CE, Parsons DW. Chakraborty R, et al. Blood. 2014 Nov 6;124(19):3007-15. doi: 10.1182/blood-2014-05-577825. Epub 2014 Sep 8. Blood. 2014. PMID: 25202140 Free PMC article.
Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis.
Chakraborty R, Burke TM, Hampton OA, Zinn DJ, Lim KP, Abhyankar H, Scull B, Kumar V, Kakkar N, Wheeler DA, Roy A, Poulikakos PI, Merad M, McClain KL, Parsons DW, Allen CE. Chakraborty R, et al. Blood. 2016 Nov 24;128(21):2533-2537. doi: 10.1182/blood-2016-08-733790. Epub 2016 Oct 11. Blood. 2016. PMID: 27729324 Free PMC article.
A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility.
Peckham-Gregory EC, Chakraborty R, Scheurer ME, Belmont JW, Abhyankar H, Sengal AG, Scull BP, Eckstein O, Zinn DJ, Mayer L, Shih A, Merad M, Parsons DW, McClain KL, Lupo PJ, Allen CE. Peckham-Gregory EC, et al. Blood. 2017 Nov 16;130(20):2229-2232. doi: 10.1182/blood-2017-08-800565. Epub 2017 Sep 21. Blood. 2017. PMID: 28935696 Free PMC article. No abstract available.
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE. Chinn IK, et al. Among authors: abhyankar ha. Blood. 2018 Jul 5;132(1):89-100. doi: 10.1182/blood-2017-11-814244. Epub 2018 Apr 9. Blood. 2018. PMID: 29632024 Free PMC article. Clinical Trial.
IFN-γ signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS.
Lin H, Scull BP, Goldberg BR, Abhyankar HA, Eckstein OE, Zinn DJ, Lubega J, Agrusa J, El Mallawaney N, Gulati N, Forbes L, Chinn I, Chakraborty R, Velasquez J, Goldman J, Bashir D, Lam F, Muscal E, Henry MM, Greenberg JN, Ladisch S, Hermiston ML, Meyer LK, Jeng M, Naqvi A, McClain K, Nguyen T, Wong H, Man TK, Jordan MB, Allen CE. Lin H, et al. Among authors: abhyankar ha. Blood Adv. 2021 Sep 14;5(17):3457-3467. doi: 10.1182/bloodadvances.2021004287. Blood Adv. 2021. PMID: 34461635 Free PMC article.
Differentiating skin-limited and multisystem Langerhans cell histiocytosis.
Simko SJ, Garmezy B, Abhyankar H, Lupo PJ, Chakraborty R, Lim KP, Shih A, Hicks MJ, Wright TS, Levy ML, McClain KL, Allen CE. Simko SJ, et al. J Pediatr. 2014 Nov;165(5):990-6. doi: 10.1016/j.jpeds.2014.07.063. Epub 2014 Oct 21. J Pediatr. 2014. PMID: 25441388 Free PMC article.
24 results