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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. Nikopoulos K, et al. Among authors: quinodoz m. Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4. Nat Commun. 2019. PMID: 31253780 Free PMC article.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B. Peter VG, et al. Among authors: quinodoz m. Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2. Genet Med. 2019. PMID: 31263216 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. Among authors: quinodoz m. 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.
Herpes simplex encephalitis in adult patients with MASP-2 deficiency.
Bibert S, Piret J, Quinodoz M, Collinet E, Zoete V, Michielin O, Menasria R, Meylan P, Bihl T, Erard V, Fellmann F, Rivolta C, Boivin G, Bochud PY. Bibert S, et al. Among authors: quinodoz m. PLoS Pathog. 2019 Dec 23;15(12):e1008168. doi: 10.1371/journal.ppat.1008168. eCollection 2019 Dec. PLoS Pathog. 2019. PMID: 31869396 Free PMC article.
54 results