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Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James CT, Beales PL, Hubank M, Thomas D, Mashankar A, Behbehani K, Schmidts M, Alsmadi O. Antony D, et al. Among authors: hubank m. Eur J Med Genet. 2017 Dec;60(12):658-666. doi: 10.1016/j.ejmg.2017.08.019. Epub 2017 Sep 12. Eur J Med Genet. 2017. PMID: 28870638 Review.
Characterisation and validation of insertions and deletions in 173 patient exomes.
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E. Lescai F, et al. Among authors: hubank m. PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14. PLoS One. 2012. PMID: 23251486 Free PMC article.
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. Waters AM, et al. Among authors: hubank m. J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. J Med Genet. 2015. PMID: 25564561 Free PMC article.
Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours.
Stankunaite R, George SL, Gallagher L, Jamal S, Shaikh R, Yuan L, Hughes D, Proszek PZ, Carter P, Pietka G, Heide T, James C, Tari H, Lynn C, Jain N, Portela LR, Rogers T, Vaidya SJ, Chisholm JC, Carceller F, Szychot E, Mandeville H, Angelini P, Jesudason AB, Jackson M, Marshall LV, Gatz SA, Anderson J, Sottoriva A, Chesler L, Hubank M. Stankunaite R, et al. Among authors: hubank m. Eur J Cancer. 2022 Feb;162:209-220. doi: 10.1016/j.ejca.2021.09.042. Epub 2021 Dec 18. Eur J Cancer. 2022. PMID: 34933802 Free article.
Chemotherapy induces canalization of cell state in childhood B-cell precursor acute lymphoblastic leukemia.
Turati VA, Guerra-Assunção JA, Potter NE, Gupta R, Ecker S, Daneviciute A, Tarabichi M, Webster AP, Ding C, May G, James C, Brown J, Conde L, Russell LJ, Ancliff P, Inglott S, Cazzaniga G, Biondi A, Hall GW, Lynch M, Hubank M, Macaulay I, Beck S, Van Loo P, Jacobsen SE, Greaves M, Herrero J, Enver T. Turati VA, et al. Among authors: hubank m. Nat Cancer. 2021 Aug;2(8):835-852. doi: 10.1038/s43018-021-00219-3. Epub 2021 Jul 5. Nat Cancer. 2021. PMID: 34734190 Free PMC article.
154 results