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Page 1
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.
Baseline Mutations and ctDNA Dynamics as Prognostic and Predictive Factors in ER-Positive/HER2-Negative Metastatic Breast Cancer Patients.
Pascual J, Gil-Gil M, Proszek P, Zielinski C, Reay A, Ruiz-Borrego M, Cutts R, Ciruelos Gil EM, Feber A, Muñoz-Mateu M, Swift C, Bermejo B, Herranz J, Margeli Vila M, Antón A, Kahan Z, Csöszi T, Liu Y, Fernandez-Garcia D, Garcia-Murillas I, Hubank M, Turner NC, Martín M. Pascual J, et al. Among authors: hubank m. Clin Cancer Res. 2023 Oct 13;29(20):4166-4177. doi: 10.1158/1078-0432.CCR-23-0956. Clin Cancer Res. 2023. PMID: 37490393 Free PMC article.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R. Bockenhauer D, et al. Among authors: hubank m. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.
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.
STAG3 truncating variant as the cause of primary ovarian insufficiency.
Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene. Le Quesne Stabej P, et al. Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059840 Free PMC article.
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.
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, Voinescu C, Patel N, Pearce K, Hubank M, Stephens HA, Laundy V, Padmanabhan S, Zawadzka A, Hofstra JM, Coenen MJ, den Heijer M, Kiemeney LA, Bacq-Daian D, Stengel B, Powis SH, Brenchley P, Feehally J, Rees AJ, Debiec H, Wetzels JF, Ronco P, Mathieson PW, Kleta R. Stanescu HC, et al. Among authors: hubank m. N Engl J Med. 2011 Feb 17;364(7):616-26. doi: 10.1056/NEJMoa1009742. N Engl J Med. 2011. PMID: 21323541 Free article.
Identification of a novel genetic locus associated with immune-mediated thrombotic thrombocytopenic purpura.
Stubbs MJ, Coppo P, Cheshire C, Veyradier A, Dufek S, Levine AP, Thomas M, Patel V, Connolly JO, Hubank M, Benhamou Y, Galicier L, Poullin P, Kleta R, Gale DP, Stanescu H, Scully MA. Stubbs MJ, et al. Among authors: hubank m. Haematologica. 2022 Mar 1;107(3):574-582. doi: 10.3324/haematol.2020.274639. Haematologica. 2022. PMID: 33596643 Free PMC article.
157 results