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CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C. Audo I, et al. Hum Mol Genet. 2014 Jan 15;23(2):491-501. doi: 10.1093/hmg/ddt439. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026677
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I. El Shamieh S, et al. Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680887 Free PMC article.
Cone dystrophy in patient with homozygous RP1L1 mutation.
Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, Yamaki K, Zeitz C, Audo I, Takahashi H. Kikuchi S, et al. Biomed Res Int. 2015;2015:545243. doi: 10.1155/2015/545243. Epub 2015 Jan 29. Biomed Res Int. 2015. PMID: 25692141 Free PMC article. Clinical Trial.
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I. Boulanger-Scemama E, et al. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3. Orphanet J Rare Dis. 2015. PMID: 26103963 Free PMC article.
69 results