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Year Number of Results
2002 1
2004 2
2005 2
2007 2
2008 2
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2010 5
2011 3
2012 2
2013 6
2014 5
2015 3
2016 7
2017 1
2018 2
2019 5
2020 7
2021 10
2022 5
2023 6
2024 1

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68 results

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Page 1
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. den Dunnen JT, et al. Among authors: roux af. Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25. Hum Mutat. 2016. PMID: 26931183
Deafness-family matters.
Roux AF. Roux AF. Eur J Hum Genet. 2022 Jan;30(1):5-6. doi: 10.1038/s41431-021-01006-5. Epub 2021 Nov 25. Eur J Hum Genet. 2022. PMID: 34819629 Free PMC article. No abstract available.
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: roux af. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: roux af. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: roux af. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Derrick CJ, Szenker-Ravi E, Santos-Ledo A, Alqahtani A, Yusof A, Eley L, Coleman AHL, Tohari S, Ng AY, Venkatesh B, Alharby E, Mansard L, Bonnet-Dupeyron MN, Roux AF, Vaché C, Roume J, Bouvagnet P, Almontashiri NAM, Henderson DJ, Reversade B, Chaudhry B. Derrick CJ, et al. Among authors: roux af. Hum Mol Genet. 2024 Jan 7;33(2):150-169. doi: 10.1093/hmg/ddad171. Hum Mol Genet. 2024. PMID: 37815931 Free PMC article.
MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. Baux D, et al. Among authors: roux af. Eur J Hum Genet. 2021 Feb;29(2):356-360. doi: 10.1038/s41431-020-00755-z. Epub 2020 Nov 7. Eur J Hum Genet. 2021. PMID: 33161418 Free PMC article.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D. de Sainte Agathe JM, et al. Among authors: roux af. Hum Genomics. 2023 Feb 10;17(1):7. doi: 10.1186/s40246-023-00451-1. Hum Genomics. 2023. PMID: 36765386 Free PMC article. Review.
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: roux af. HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37654703 Free PMC article.
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. Among authors: roux af. Hum Mutat. 2021 Apr;42(4):323-341. doi: 10.1002/humu.24174. Epub 2021 Feb 19. Hum Mutat. 2021. PMID: 33538369 Review.
68 results