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Page 1
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM. Schmidts M, et al. Among authors: christou savina s. Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31. Am J Hum Genet. 2013. PMID: 24183451 Free PMC article.
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Haq N, Schmidt-Hieber C, Sialana FJ, Ciani L, Heller JP, Stewart M, Bentley L, Wells S, Rodenburg RJ, Nolan PM, Forsythe E, Wu MC, Lubec G, Salinas PC, Häusser M, Beales PL, Christou-Savina S. Haq N, et al. Among authors: christou savina s. PLoS Biol. 2019 Oct 8;17(10):e3000520. doi: 10.1371/journal.pbio.3000520. eCollection 2019 Oct. PLoS Biol. 2019. PMID: 31593567 Free PMC article.
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Haq N, Schmidt-Hieber C, Sialana FJ, Ciani L, Heller JP, Stewart M, Bentley L, Wells S, Rodenburg RJ, Nolan PM, Forsythe E, Wu MC, Lubec G, Salinas P, Häusser M, Beales PL, Christou-Savina S. Haq N, et al. Among authors: christou savina s. PLoS Biol. 2019 Sep 3;17(9):e3000414. doi: 10.1371/journal.pbio.3000414. eCollection 2019 Sep. PLoS Biol. 2019. PMID: 31479441 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: christou savina s. 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.