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Page 1
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum Mutat. 2020 Jan;41(1):240-254. doi: 10.1002/humu.23924. Epub 2019 Oct 17.
Hum Mutat. 2020.
PMID: 31549751
Could internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
Dormegny L, Studer F, Sauer A, Ballonzoli L, Speeg-Schatz C, Bourcier T, Dollfus H, Gaucher D.
Dormegny L, et al. Among authors: studer f.
Heliyon. 2024 Jan 26;10(3):e25154. doi: 10.1016/j.heliyon.2024.e25154. eCollection 2024 Feb 15.
Heliyon. 2024.
PMID: 38322949
Free PMC article.
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H.
Kröll-Hermi A, et al. Among authors: studer f.
EMBO Mol Med. 2020 Jul 7;12(7):e11861. doi: 10.15252/emmm.201911861. Epub 2020 Jun 5.
EMBO Mol Med. 2020.
PMID: 32500975
Free PMC article.
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Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.
Scheidecker S, et al. Among authors: studer f.
Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.
Am J Ophthalmol. 2015.
PMID: 25982971
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MSX2 Gene Duplication in a Patient with Eye Development Defects.
Plaisancié J, Collet C, Pelletier V, Perdomo Y, Studer F, Fradin M, Schaefer E, Speeg-Schatz C, Bloch-Zupan A, Flori E, Dollfus H.
Plaisancié J, et al. Among authors: studer f.
Ophthalmic Genet. 2015;36(4):353-8. doi: 10.3109/13816810.2014.886270. Epub 2014 Mar 25.
Ophthalmic Genet. 2015.
PMID: 24666290
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Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
Mauring L, Porter LF, Pelletier V, Riehm A, Leuvrey AS, Gouronc A, Studer F, Stoetzel C, Dollfus H, Muller J.
Mauring L, et al. Among authors: studer f.
Front Genet. 2020 Aug 21;11:938. doi: 10.3389/fgene.2020.00938. eCollection 2020.
Front Genet. 2020.
PMID: 32973878
Free PMC article.
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