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Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
Bauwens M, Celik E, Zur D, Lin S, Quinodoz M, Michaelides M, Webster AR, Van Den Broeck F, Leroy BP, Rizel L, Moye AR, Meunier A, Tran HV, Moulin AP, Mahieu Q, Van Heetvelde M, Arno G, Rivolta C, De Baere E, Ben-Yosef T. Bauwens M, et al. Among authors: moye ar. Am J Hum Genet. 2024 Feb 1;111(2):393-402. doi: 10.1016/j.ajhg.2024.01.001. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272031 Free PMC article.
Expansion Microscopy of Mouse Photoreceptor Cilia.
Moye AR, Robichaux MA, Wensel T. Moye AR, et al. Adv Exp Med Biol. 2023;1415:395-402. doi: 10.1007/978-3-031-27681-1_58. Adv Exp Med Biol. 2023. PMID: 37440063 Free PMC article.
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
Moye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Mathers P, Peter VG, Quinodoz M, Paris LP, Coutinho-Santos L, Camacho P, Purcell MG, Winkelmann AC, Foster JA, Pugacheva EN, Rivolta C, Ramamurthy V. Moye AR, et al. PLoS Genet. 2019 Aug 19;15(8):e1008315. doi: 10.1371/journal.pgen.1008315. eCollection 2019 Aug. PLoS Genet. 2019. PMID: 31425546 Free PMC article.
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