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| 1 | Development of a fluorescent - Bead - Based multiplex immunoassay to determine immunoglobulin G subclass responses to Neisseria meningitidis serogroup A and C polysaccharides 显示文摘 | Richarda M de Voer Fiona RM van der Klis Carla WAM Engels et al | 2008 | Clin Vaccine Immunol2008，15，8： | 1 |
| 2 | Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases显示文摘AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer(CRC) predisposing genes in early-onset or familial CRC cases.METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with nonpolyposis CRC diagnosed at ≤ 40 years of age, or from multiple affected CRC families with at least 1 firstdegree relative diagnosed with CRC at ≤ 55 years of age.Genomic DNA from blood was enriched for exome sequences using the Sure Select Human All Exon Kit, version 2(Agilent Technologies) and sequencing was performed on an Illumina Hi Seq 2000 platform.Data were processed through an analytical pipeline to search for rare germline variants in known or novel CRC predisposing genes.RESULTS: In total, 32 germline variants in 23 genes were identified and confirmed by Sanger sequencing.In 6 of the 21 families(29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1(5 patients), MSH2(1 patient), and MUTYH(biallelic, 1 patient), five of which were reported as pathogenic.Inthe remaining 15 families, we identified 20 rare and novel potentially deleterious variants in 19 genes, six of which were truncating mutations.One previously unreported variant identified in a conserved region of EIF2AK4(p.Glu738_Asp739insA rgA rg) was found to represent a local Chinese variant, which was significantly enriched in our early-onset CRC patient cohort compared to a control cohort of 100 healthy Chinese individuals scored negative by colonoscopy(33.3% vs 7%, P < 0.001).CONCLUSION: Whole-exome sequencing of early-onset or familial CRC cases serves as an efficient method to identify known and potential pathogenic variants in established and novel candidate CRC predisposing genes. | Jun-Xiao Zhang Lei Fu Richarda M de Voer Marc-Manuel Hahn Peng Jin Chen-Xi Lv Eugène TP Verwiel Marjolijn JL Ligtenberg Nicoline Hoogerbrugge Roland P Kuiper Jian-Qiu Sheng Ad Geurts van Kessel | 2015 | World Journal of Gastroenterology2015，21，14： | 1 |
| 3 | Phenazin^l-carboxamide production in the biocon-trol strain Pseudomonas chlororaphis PCL1391 isregulated by multiple factors secreted into the growthmedium 显示文摘 | Chin-A-Woeng T F C van den Broek D de Voer G etal | 2001 | Molecular Plant-Microbe Interactions2001，14，8： | 1 |
| 4 | Agricultural water management in water-starved countries : challenges and opportunities 显示文摘 | OADIR M VOERS TH M SCHUBERT S | 2003 | Agricultural Water Management2003，62，3： | 1 |
| 5 | Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer显示文摘 | Richarda M. de Voer Ad Geurts van Kessel Robbert D.A. Weren Marjolijn J.L. Ligtenberg Dominique Smeets Lei Fu Lilian Vreede Eveline J. Kamping Eugène T.P. Verwiel Marc-Manuel Hahn Maayke Ariaans Liesbeth Spruijt Ton van Essen Gunnar Houge Hans K. Schacker | 2013 | Gastroenterology2013，，： | 1 |
| 6 | Development of a fluorescent-bead-based multiplex immunoassay to determine immunoglobulin G subclass responses to Neisseria meningitidis serogroup A and C polysaccharides显示文摘 | de Voer RM van der Klis FR Engels CW | | 0，，： | 1 |
| 7 | Galectin-3 : a novel mediator of heart failure development and progression 显示文摘 | de Boer RA Voers AA Muntendam P | 2009 | Ear J Heart Fail2009，11，9： | 1 |
| 8 | Development of a fluorescent-bead-based multiplex immunoassay to determine im-munoglobulin G subclass responses to Neisseria meningitidis sero-group A and C polysaccharides显示文摘 | de Voer RM van der Klis FR Engels CW | | 0，，08： | 1 |
| 9 | Drosophila Secl6 mediates the biogenesis of tERsites upstream of Sari through an arginine-rich motif显示文摘 | IVAN V DE VOER G XANTHAKIS D | 2008 | Mol Biol Cell2008，19，43： | 1 |
| 10 | Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype显示文摘 | G. Voer P. van Bent A. J. G. Rodrigues G.-J. B. Ommen D. J. M. Peters P. E. M. Taschner | 2005 | Journal of Inherited Metabolic Disease2005，，6： | 1 |
| 11 | Caenorhabditis elegans as a model for lysosomal storage disorders 显示文摘 | De Voer G Peters D Taschner PE | 2008 | Biochim Biophys Acta2008，1782，： | 1 |
| 12 | Wnt genes in colonic polyposis predisposition显示文摘Much of the genetic predisposition to polyposis,and particularly to serrated polyposis(SP),remains unknown.Only germline pathogenic variants in RNF43,a tumor suppressor that exerts negative feedback in the Wnt/β-catenin signaling pathway,have been causally linked to some SP cases(<2%),a disease associated with increased risk of colorectal cancer(CRC).^(1) Most known hereditary CRC and polyposis genes affect DNA repair,BMP/TGF-β,or Wnt signaling,being the latter associated with adenomatous and serrated polyposis phenotypes.2 Based on this observation,we evaluated the presence and role of germline variants in those pathways in unsolved polyposis patients. | Isabel Quintana Mariona Terradas Pilar Mur Iris B.A.Wte Paske Sophia Peters Isabel Spier Verena Steinke-Lange Claudia Maestro David Torrents Montserrat Puiggròs Romina Royo Raul Tonda Genís Parra Davide Piscia Sergi Beltrán Matilde Navarro Virginia Piñol Joan Brunet Noemi Gonzalez-Abuin Gemma Aiza Anna Sommer Yasmijn van Herwaarden Galuh Astuti Elke Holinski-Feder Nicoline Hoogerbrugge Richarda Mde Voer Stefan Aretz Gabriel Capellá Laura Valle | 2023 | Genes & Diseases2023，10，3： | 0 |
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