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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM. Poncet AF, et al. Among authors: schorderet df. Int J Mol Sci. 2022 Apr 13;23(8):4294. doi: 10.3390/ijms23084294. Int J Mol Sci. 2022. PMID: 35457110 Free PMC article.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: schorderet df. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, Matri KE, Matri LE, Schorderet DF. Habibi I, et al. Among authors: schorderet df. Genes (Basel). 2019 Nov 21;10(12):953. doi: 10.3390/genes10120953. Genes (Basel). 2019. PMID: 31766397 Free PMC article.
Prominent Optic Disc Featured in Inherited Retinopathy.
Todorova MG, Bojinova RI, Valmaggia C, Schorderet DF. Todorova MG, et al. Among authors: schorderet df. Klin Monbl Augenheilkd. 2017 Apr;234(4):577-583. doi: 10.1055/s-0042-121335. Epub 2017 Feb 1. Klin Monbl Augenheilkd. 2017. PMID: 28147405 English.
Analysis of Inherited Optic Neuropathies.
Lazdinyte S, Schorderet DF, Schaller A, Valmaggia C, Todorova MG. Lazdinyte S, et al. Among authors: schorderet df. Klin Monbl Augenheilkd. 2019 Apr;236(4):451-461. doi: 10.1055/a-0829-6828. Epub 2019 Mar 4. Klin Monbl Augenheilkd. 2019. PMID: 30831606 English.
286 results