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Page 1
CiliaCarta: An integrated and validated compendium of ciliary genes.
van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA. van Dam TJP, et al. Among authors: lu q. PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019. PLoS One. 2019. PMID: 31095607 Free PMC article.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: lu q. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE. Sanders AA, et al. Among authors: lu q. Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z. Genome Biol. 2015. PMID: 26714646 Free PMC article.
Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions.
Betts MJ, Lu Q, Jiang Y, Drusko A, Wichmann O, Utz M, Valtierra-Gutiérrez IA, Schlesner M, Jaeger N, Jones DT, Pfister S, Lichter P, Eils R, Siebert R, Bork P, Apic G, Gavin AC, Russell RB. Betts MJ, et al. Among authors: lu q. Nucleic Acids Res. 2015 Jan;43(2):e10. doi: 10.1093/nar/gku1094. Epub 2014 Nov 11. Nucleic Acids Res. 2015. PMID: 25392414 Free PMC article.
DNA methylome analysis in Burkitt and follicular lymphomas identifies differentially methylated regions linked to somatic mutation and transcriptional control.
Kretzmer H, Bernhart SH, Wang W, Haake A, Weniger MA, Bergmann AK, Betts MJ, Carrillo-de-Santa-Pau E, Doose G, Gutwein J, Richter J, Hovestadt V, Huang B, Rico D, Jühling F, Kolarova J, Lu Q, Otto C, Wagener R, Arnolds J, Burkhardt B, Claviez A, Drexler HG, Eberth S, Eils R, Flicek P, Haas S, Humme M, Karsch D, Kerstens HHD, Klapper W, Kreuz M, Lawerenz C, Lenzek D, Loeffler M, López C, MacLeod RAF, Martens JHA, Kulis M, Martín-Subero JI, Möller P, Nage I, Picelli S, Vater I, Rohde M, Rosenstiel P, Rosolowski M, Russell RB, Schilhabel M, Schlesner M, Stadler PF, Szczepanowski M, Trümper L, Stunnenberg HG, Küppers R, Ammerpohl O, Lichter P, Siebert R, Hoffmann S, Radlwimmer B. Kretzmer H, et al. Among authors: lu q. Nat Genet. 2015 Nov;47(11):1316-1325. doi: 10.1038/ng.3413. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437030 Free PMC article.
SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis.
Hasselblatt M, Nagel I, Oyen F, Bartelheim K, Russell RB, Schüller U, Junckerstorff R, Rosenblum M, Alassiri AH, Rossi S, Schmid I, Gottardo NG, Toledano H, Viscardi E, Balbin M, Witkowski L, Lu Q, Betts MJ, Foulkes WD, Siebert R, Frühwald MC, Schneppenheim R. Hasselblatt M, et al. Among authors: lu q. Acta Neuropathol. 2014 Sep;128(3):453-6. doi: 10.1007/s00401-014-1323-x. Epub 2014 Jul 25. Acta Neuropathol. 2014. PMID: 25060813 No abstract available.
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