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Predicting disease-causing variant combinations.
Papadimitriou S, Gazzo A, Versbraegen N, Nachtegael C, Aerts J, Moreau Y, Van Dooren S, Nowé A, Smits G, Lenaerts T. Papadimitriou S, et al. Among authors: van dooren s. Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):11878-11887. doi: 10.1073/pnas.1815601116. Epub 2019 May 24. Proc Natl Acad Sci U S A. 2019. PMID: 31127050 Free PMC article.
Understanding mutational effects in digenic diseases.
Gazzo A, Raimondi D, Daneels D, Moreau Y, Smits G, Van Dooren S, Lenaerts T. Gazzo A, et al. Among authors: van dooren s. Nucleic Acids Res. 2017 Sep 6;45(15):e140. doi: 10.1093/nar/gkx557. Nucleic Acids Res. 2017. PMID: 28911095 Free PMC article.
DIDA: A curated and annotated digenic diseases database.
Gazzo AM, Daneels D, Cilia E, Bonduelle M, Abramowicz M, Van Dooren S, Smits G, Lenaerts T. Gazzo AM, et al. Among authors: van dooren s. Nucleic Acids Res. 2016 Jan 4;44(D1):D900-7. doi: 10.1093/nar/gkv1068. Epub 2015 Oct 19. Nucleic Acids Res. 2016. PMID: 26481352 Free PMC article.
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J. Shahi RB, et al. Among authors: van dooren s. BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7. BMC Cancer. 2019. PMID: 30947698 Free PMC article.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, La… See abstract for full author list ➔ Barc J, et al. Among authors: van dooren s, van den berg lh, van damme p, van de berg mp. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S. Bissay V, et al. Among authors: van malderen sc, van dooren s. Eur J Hum Genet. 2016 Mar;24(3):400-7. doi: 10.1038/ejhg.2015.125. Epub 2015 Jun 3. Eur J Hum Genet. 2016. PMID: 26036855 Free PMC article.
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
Peeters U, Scornik F, Riuró H, Pérez G, Komurcu-Bayrak E, Van Malderen S, Pappaert G, Tarradas A, Pagans S, Daneels D, Breckpot K, Brugada P, Bonduelle M, Brugada R, Van Dooren S. Peeters U, et al. Among authors: van dooren s, van malderen s. Circ J. 2015;79(10):2118-29. doi: 10.1253/circj.CJ-15-0164. Epub 2015 Jul 15. Circ J. 2015. PMID: 26179811 Free article. Clinical Trial.
Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.
Sassi A, Désir J, Janssens V, Marangoni M, Daneels D, Gheldof A, Bonduelle M, Van Dooren S, Costagliola S, Delbaere A. Sassi A, et al. Among authors: van dooren s. F S Rep. 2020 Aug 22;1(3):193-201. doi: 10.1016/j.xfre.2020.08.008. eCollection 2020 Dec. F S Rep. 2020. PMID: 34223243 Free PMC article.
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variant　- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Van Malderen SCH, Daneels D, Kerkhove D, Peeters U, Theuns DAMJ, Droogmans S, Van Camp G, Weytjens C, Biervliet M, Bonduelle M, Van Dooren S, Brugada P. Van Malderen SCH, et al. Among authors: van dooren s, van camp g. Circ J. 2017 Dec 25;82(1):53-61. doi: 10.1253/circj.CJ-16-1279. Epub 2017 Aug 4. Circ J. 2017. PMID: 28781330 Free article.
116 results