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Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E; Genomics England Research Consortium; Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS. Devlin LA, et al. Among authors: molinari e. Clin Genet. 2023 Mar;103(3):330-334. doi: 10.1111/cge.14251. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36273371 Free PMC article.
Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E, Powell L, Miles CG, Sayer JA. Devlin LA, et al. Among authors: molinari e. PLoS One. 2020 Jan 28;15(1):e0221914. doi: 10.1371/journal.pone.0221914. eCollection 2020. PLoS One. 2020. PMID: 31990917 Free PMC article.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. Alkanderi S, et al. Among authors: molinari e. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27. Am J Hum Genet. 2018. PMID: 30269812 Free PMC article.
435 results