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Page 1
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Among authors: sandron f. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G, Zaréa A, Lacour M, Quenez O, Rousseau S, Richard AC, Bonnevalle A, Schramm C, Olaso R, Sandron F, Boland A, Deleuze JF, Andriuta D, Anthony P, Auriacombe S, Balageas AC, Ballan G, Barbay M, Béjot Y, Belliard S, Benaiteau M, Bennys K, Bombois S, Boutoleau-Bretonnière C, Branger P, Carlier J, Cartz-Piver L, Cassagnaud P, Ceccaldi MP, Chauviré V, Chen Y, Cogez J, Cognat E, Contegal-Callier F, Corneille L, Couratier P, Cretin B, Crinquette C, Dauriat B, Dautricourt S, de la Sayette V, de Liège A, Deffond D, Demurger F, Deramecourt V, Derollez C, Dionet E, Doco Fenzy M, Dumurgier J, Dutray A, Etcharry-Bouyx F, Formaglio M, Gabelle A, Gainche-Salmon A, Godefroy O, Graber M, Gregoire C, Grimaldi S, Gueniat J, Gueriot C, Guillet-Pichon V, Haffen S, Hanta CR, Hardy C, Hautecloque G, Heitz C, Hourregue C, Jonveaux T, Jurici S, Koric L, Krolak-Salmon P, Lagarde J, Lanoiselée HM, Laurens B, Le Ber I, Le Guyader G, Leblanc A, Lebouvier T, Levy R, Lippi A, Mackowiak MA, Magnin E, Marelli C, Martinaud O, Maureille A, Migliaccio R, Milongo-Rigal E, Mohr S, Mollion H, Morin A, Nivelle J, Noiray C, Olivieri P, Paquet C, Pariente J, Pasquier F, Perron A, Philippi N, Planche V, Pouc… See abstract for full author list ➔ Nicolas G, et al. Among authors: sandron f. Genet Med. 2024 Jan 24;26(5):101082. doi: 10.1016/j.gim.2024.101082. Online ahead of print. Genet Med. 2024. PMID: 38281098 Free article.
How local reference panels improve imputation in French populations.
Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
Gargaun E, Falcone S, Solé G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Béroud C, Chessel A, Blesius A, Krahn M, Levy N, Leturcq F, Pietri-Rouxel F. Gargaun E, et al. Among authors: sandron f. Biomedicines. 2021 Feb 20;9(2):219. doi: 10.3390/biomedicines9020219. Biomedicines. 2021. PMID: 33672764 Free PMC article.
Heterogeneity of SARS-CoV-2 virus produced in cell culture revealed by shotgun proteomics and supported by genome sequencing.
Gallais F, Pible O, Gaillard JC, Debroas S, Batina H, Ruat S, Sandron F, Delafoy D, Gerber Z, Olaso R, Gas F, Bellanger L, Deleuze JF, Grenga L, Armengaud J. Gallais F, et al. Among authors: sandron f. Anal Bioanal Chem. 2021 Dec;413(29):7265-7275. doi: 10.1007/s00216-021-03401-9. Epub 2021 May 20. Anal Bioanal Chem. 2021. PMID: 34013402 Free PMC article.
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: sandron 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.
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delépine M, Palomares MA, Jubin C, Blanché H, Meyer V, Boland A, Olaso R, Deleuze JF. Bonnet E, et al. Among authors: sandron f. PLoS One. 2018 Apr 5;13(4):e0195471. doi: 10.1371/journal.pone.0195471. eCollection 2018. PLoS One. 2018. PMID: 29621323 Free PMC article.