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Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
Martínez-López J, Márquez A, Pegoraro F, Ortiz-Fernández L, Acosta-Herrera M, Kerick M, Gelain E, Diamond EL, Durham BH, Abdel-Wahab O, Go RS, Koster MJ, Dagna L, Campochiaro C, Collin M, Milne P, Estrada-Veras JI, O'Brien K, Papo M, Cohen-Aubar F, Amoura Z, Haroche J, Martín J, Vaglio A. Martínez-López J, et al. Arthritis Rheumatol. 2024 Jan;76(1):141-145. doi: 10.1002/art.42673. Epub 2023 Nov 7. Arthritis Rheumatol. 2024. PMID: 37561109
Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease.
Shekhar S, Sinaii N, Irizarry-Caro JA, Gahl WA, Estrada-Veras JI, Dave R, Papadakis GZ, Tirosh A, Abel BS, Klubo-Gwiezdzinska J, Skarulis MC, Gochuico BR, O'Brien K, Hannah-Shmouni F. Shekhar S, et al. JAMA Netw Open. 2020 Oct 1;3(10):e2019169. doi: 10.1001/jamanetworkopen.2020.19169. JAMA Netw Open. 2020. PMID: 33119105 Free PMC article.
Survivorship Issues in Adult Patients With Histiocytic Neoplasms.
O'Brien K, Dave R, Shekhar S, Hannah-Shmouni F, Comis LE, Solomon BI, Chen M, Gahl WA, FitzGibbon E, Gochuico BR, Estrada-Veras JI. O'Brien K, et al. J Natl Compr Canc Netw. 2021 Nov;19(11):1312-1318. doi: 10.6004/jnccn.2021.7096. J Natl Compr Canc Netw. 2021. PMID: 34781266 Free PMC article. Review.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group; Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Sloan JL, et al. Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908. Nat Genet. 2011. PMID: 21841779 Free PMC article.
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. Lindhurst MJ, et al. N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27. N Engl J Med. 2011. PMID: 21793738 Free PMC article.
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA. O'Brien K, et al. Mol Genet Metab. 2011 Jun;103(2):128-34. doi: 10.1016/j.ymgme.2011.02.003. Epub 2011 Mar 21. Mol Genet Metab. 2011. PMID: 21420888 Free PMC article. Clinical Trial.
2,965 results