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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: dhanraj 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
The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y. Waespe N, et al. Among authors: dhanraj s. NPJ Genom Med. 2017 May 10;2:18. doi: 10.1038/s41525-017-0019-2. NPJ Genom Med. 2017. PMID: 28690869 Free PMC article.
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S, Cuvelier GD, Klaassen RJ, Fernandez CV, Pastore YD, Abish S, Rayar M, Steele M, Jardine L, Breakey VR, Brossard J, Sinha R, Silva M, Goodyear L, Lipton JH, Michon B, Corriveau-Bourque C, Sung L, Shabanova I, Li H, Zlateska B, Dhanraj S, Cada M, Scherer SW, Dror Y. Lauhasurayotin S, et al. Among authors: dhanraj s. NPJ Genom Med. 2019 Dec 9;4:30. doi: 10.1038/s41525-019-0104-9. eCollection 2019. NPJ Genom Med. 2019. PMID: 31839986 Free PMC article.
Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia.
Moshiri H, Cabrera Riofrío DA, Lim YJ, Lauhasurayotin S, Manisterski M, Elhasid R, Bonilla FA, Dhanraj S, Armstrong RN, Li H, Scherer SW, Hernández-Hernández A, Dror Y. Moshiri H, et al. Among authors: dhanraj s. Leukemia. 2022 Aug;36(8):2132-2135. doi: 10.1038/s41375-022-01610-4. Epub 2022 May 28. Leukemia. 2022. PMID: 35643866 No abstract available.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y. Dhanraj S, et al. J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4. J Med Genet. 2015. PMID: 26342108
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Dhanraj S, et al. Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. Blood. 2017. PMID: 28062395 Free article. Clinical Trial. No abstract available.
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y. Shalata A, et al. Among authors: dhanraj s. J Med Genet. 2019 May;56(5):340-346. doi: 10.1136/jmedgenet-2018-105421. Epub 2018 Oct 16. J Med Genet. 2019. PMID: 30327448
17 results