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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 3
1995 2
1997 3
1998 1
1999 2
2000 2
2001 1
2002 2
2003 1
2005 2
2006 1
2007 2
2008 1
2009 6
2010 3
2011 2
2012 6
2013 2
2015 1
2018 1
2019 1
2022 1
2023 2
2024 0

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45 results

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Page 1
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: fajardy i. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: fajardy i. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
[The HLA system: a clinical help?].
Fajardy I, Rousseaux J, Danze PM. Fajardy I, et al. Ann Biol Clin (Paris). 1997 Mar-Apr;55(2):93-101. Ann Biol Clin (Paris). 1997. PMID: 9180962 Free article. Review. French.
Is neuromyelitis optica associated with human leukocyte antigen?
Zéphir H, Fajardy I, Outteryck O, Blanc F, Roger N, Fleury M, Rudolf G, Marignier R, Vukusic S, Confavreux C, Vermersch P, de Seze J. Zéphir H, et al. Among authors: fajardy i. Mult Scler. 2009 May;15(5):571-9. doi: 10.1177/1352458508102085. Epub 2009 Mar 19. Mult Scler. 2009. PMID: 19299434
Comparing HLA shared epitopes in French Caucasian patients with scleroderma.
Azzouz DF, Rak JM, Fajardy I, Allanore Y, Tiev KP, Farge-Bancel D, Martin M, Kanaan SB, Pagni PP, Hachulla E, Harlé JR, Didelot R, Granel B, Cabane J, Roudier J, Lambert NC. Azzouz DF, et al. Among authors: fajardy i. PLoS One. 2012;7(5):e36870. doi: 10.1371/journal.pone.0036870. Epub 2012 May 15. PLoS One. 2012. PMID: 22615829 Free PMC article.
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: fajardy i. PLoS One. 2012;7(6):e37423. doi: 10.1371/journal.pone.0037423. Epub 2012 Jun 11. PLoS One. 2012. PMID: 22701567 Free PMC article.
Time course analysis of RNA stability in human placenta.
Fajardy I, Moitrot E, Vambergue A, Vandersippe-Millot M, Deruelle P, Rousseaux J. Fajardy I, et al. BMC Mol Biol. 2009 Mar 10;10:21. doi: 10.1186/1471-2199-10-21. BMC Mol Biol. 2009. PMID: 19284566 Free PMC article.
45 results