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Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Among authors: abish s. Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374066
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Among authors: abish s. Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8. Nat Genet. 2019. PMID: 30429576
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y. Ghemlas I, et al. Among authors: abish s. J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1. J Med Genet. 2015. PMID: 26136524
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM. Pearson T, et al. Among authors: abish s. Am J Med Genet A. 2008 Aug 15;146A(16):2159-61. doi: 10.1002/ajmg.a.32412. Am J Med Genet A. 2008. PMID: 18627054 No abstract available.
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y. Hashmi SK, et al. Among authors: abish s. Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x. Clin Genet. 2011. PMID: 20569259
47 results