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Year Number of Results
1982 1
1984 1
1993 1
1994 1
1997 5
1998 5
1999 5
2000 3
2001 2
2002 3
2003 1
2004 4
2005 7
2006 6
2007 3
2008 4
2009 3
2010 6
2011 1
2012 1
2013 1
2014 5
2015 4
2016 5
2017 8
2018 12
2019 9
2020 10
2021 10
2022 6
2023 5
2024 6
2025 5

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134 results

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Page 1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: de bruyne m. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
OPENPichia: licence-free Komagataella phaffii chassis strains and toolkit for protein expression.
Claes K, Van Herpe D, Vanluchene R, Roels C, Van Moer B, Wyseure E, Vandewalle K, Eeckhaut H, Yilmaz S, Vanmarcke S, Çıtak E, Fijalkowska D, Grootaert H, Lonigro C, Meuris L, Michielsen G, Naessens J, van Schie L, De Rycke R, De Bruyne M, Borghgraef P, Callewaert N. Claes K, et al. Among authors: de bruyne m. Nat Microbiol. 2024 Mar;9(3):864-876. doi: 10.1038/s41564-023-01574-w. Epub 2024 Mar 4. Nat Microbiol. 2024. PMID: 38443579 Free PMC article.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A, Del Pozo Valero M, Bouckaert M, Wood KA, Van den Broeck F, Daich Varela M, Thomas HB, Van Heetvelde M, De Bruyne M, Van de Sompele S, Bauwens M, Lenaerts H, Mahieu Q, Josifova D; Genomics England Research Consortium; Rivolta C, O'Keefe RT, Ellingford J, Webster AR, Arno G, Ayuso C, De Zaeytijd J, Leroy BP, De Baere E, Coppieters F. Dueñas Rey A, et al. Among authors: de bruyne m. Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. Genome Med. 2024. PMID: 38184646 Free PMC article.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: de bruyne m. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
Insight in the chemistry of laser-activated dental bleaching.
De Moor RJ, Verheyen J, Diachuk A, Verheyen P, Meire MA, De Coster PJ, Keulemans F, De Bruyne M, Walsh LJ. De Moor RJ, et al. Among authors: de bruyne m. ScientificWorldJournal. 2015;2015:650492. doi: 10.1155/2015/650492. Epub 2015 Mar 22. ScientificWorldJournal. 2015. PMID: 25874251 Free PMC article. Review.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: de bruyne m. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
Antibiotics at replantation of avulsed permanent teeth? A systematic review.
Bourgeois J, Carvalho JC, De Bruyne M, Declerck D, Eloot A, Leroy R. Bourgeois J, et al. Among authors: de bruyne m. J Evid Based Dent Pract. 2022 Jun;22(2):101706. doi: 10.1016/j.jebdp.2022.101706. Epub 2022 Mar 2. J Evid Based Dent Pract. 2022. PMID: 35718435 Review.
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141.
Naesens L, Muppala S, Acharya D, Nemegeer J, Bogaert D, Lee JH, Staes K, Debacker V, De Bleser P, De Bruyne M, De Baere E, van Gent M, Liu G, Lambrecht BN, Staal J, Kerre T, Beyaert R, Maelfait J, Tavernier SJ, Gack MU, Haerynck F. Naesens L, et al. Among authors: de bruyne m. Sci Immunol. 2022 Nov 25;7(77):eabq4531. doi: 10.1126/sciimmunol.abq4531. Epub 2022 Nov 18. Sci Immunol. 2022. PMID: 36399538 Free PMC article.
134 results