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Browsing by Author "Ligtenberg, M.J.L."
Now showing items 1-50 of 225
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Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases Broek, R.W. ten; Eijkelenboom, A.; ; ; ; Verhoeven, B.H.; Grünberg, K.; ; Tops, B.B.J.; ; et al.2019, Article / Letter to editor (Genes, Chromosomes & Cancer, vol. 58, iss. 8, (2019), pp. 541-550)
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Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics Eijkelenboom, A.; Tops, B.B.J.; Berg, A. van den; Brule, A.J.C. van den; Dinjens, W.N.; Dubbink, H.J.; Elst, A. Ter; Geurts-Giele, W.R.R.; ; Groenendijk, F.H.; et al.2019, Article / Letter to editor (Virchows Archiv, vol. 474, iss. 6, (2019), pp. 673-680)
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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype Grolleman, J.E.; Voer, R.M. de; Elsayed, F.A.; Nielsen, Maartje; Weren, R.D.A.; Palles, Claire; ; Vos, J.R.; ; ; et al.2019, Article / Letter to editor (Cancer Cell, vol. 35, iss. 2, (2019), pp. 256-+)
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Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility Weren, R.D.A.; Post, R.S. van der; Vogelaar, I.P.; ; ; Lubinski, J.; Jakubowska, A.; Teodorczyk, U.; Aalfs, C.M.; Hest, L.P. van; et al.2018, Article / Letter to editor (Journal of Medical Genetics, vol. 55, iss. 10, (2018), pp. 669-674)
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High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer ; ; ; ; ; ; Hopman, S.; Olderode-Berends, M.J.; Gerkes, E.H.; ; et al.2018, Article / Letter to editor (Clinical Cancer Research, vol. 24, iss. 7, (2018), pp. 1594-1603)
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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas. Weren, R.D.A.; ; Simons, M.; Eijkelenboom, A.; Sie, A.S.; Ouchene, H.; Asseldonk, M. van; Gomez-Garcia, E.B.; Blok, M.J.; ; et al.2017, Article / Letter to editor (Human Mutation, vol. 38, iss. 2, (2017), pp. 226-235)
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BRCA Testing by Single-Molecule Molecular Inversion Probes ; ; Derks, R; Kwint, M.P.; Ouchene, H.; ; Lier, L.A. van; Bosgoed, E.A.J.; Rikken, A.; Tychon, M.W.J.; et al.2017, Article / Letter to editor (Clinical Chemistry, vol. 63, iss. 2, (2017), pp. 503-512)
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Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients Capoluongo, E.; Ellison, G.; Lopez-Guerrero, J.A.; Penault-Llorca, F.; ; Banerjee, S.; Singer, C.; Friedman, E.; Markiefka, B.; Schirmacher, P.; et al.2017, Article / Letter to editor (Seminars in Oncology, vol. 44, iss. 3, (2017), pp. 187-197)
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Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL Deans, Z.C.; Costa, J.L.; Cree, I.; Dequeker, E.; Edsjo, A.; Henderson, S.; Hummel, M.; ; Loddo, M.; Machado, J.C.; et al.2017, Article / Letter to editor (Virchows Archiv, vol. 470, iss. 1, (2017), pp. 5-20)
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing Vogelaar, I.P.; Post, R.S. van der; ; ; Zelst-Stams, W.A.G. van; ; Lubinski, J.; Jakubowska, A.; Teodorczyk, U.; Aalfs, C.M.; et al.2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 11, (2017), pp. 1246-1252)
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A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. Zhang, J.; Wang, W.; Voer, R.M. de; ; ; Weren, R.D.A.; Nelen, M.; ; ; ; et al.2017, Article / Letter to editor (Oncotarget, vol. 8, (2017), pp. 24533-24547)
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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome Klift, H.M. van der; ; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.; Redeker, B.E.; Tiersma, Y.; Zonneveld, J.B.; Garcia, E.G.; et al.2016, Article / Letter to editor (Human Mutation, vol. 37, iss. 11, (2016), pp. 1162-1179)
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Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility Voer, R.M. de; Hahn, M.M.; Weren, R.D.A.; ; ; Zelst-Stams, W.A. van; ; ; Zhang, J.Z; ; et al.2016, Article / Letter to editor (Plos Genetics, vol. 12, iss. 2, (2016), pp. e1005880)
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Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect Vogelaar, I.P.; ; Post, R.S. van der; Voer, R.M. de; ; ; ; ; ; ; et al.2016, Article / Letter to editor (Familial Cancer, vol. 15, iss. 2, (2016), pp. 289-296)
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Development of a semi-conductor sequencing-based panel for genotyping of colon and lung cancer by the Onconetwork consortium Tops, B.B.J.; Normanno, N.; Kurth, H.; Amato, E.; Mafficini, A.; Rieber, N.; Corre, D. Le; Rachiglio, A.M.; Reiman, A.; Sheils, O.; et al.2015, Article / Letter to editor (BMC Cancer, vol. 15, (2015), pp. 26)
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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers Blanco, I.; Kuchenbaecker, K.; Cuadras, D.; Wang, X.; Barrowdale, D.; Garibay, G.R. de; Librado, P.; Sanchez-Gracia, A.; Rozas, J.; Bonifaci, N.; et al.2015, Article / Letter to editor (PLoS One, vol. 10, iss. 4, (2015), pp. e0120020)
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Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer Elsayed, F.A.; ; Ruano, D.; Akker, B. van den; ; Schrumpf, M.; Nielsen, M.; Wijnen, J.T.; Tops, C.M.; ; et al.2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 8, (2015), pp. 1080-1084)
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Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects Vrijenhoek, T.; Kraaijeveld, K.; Elferink, M.; ; Kranendonk, E.; Santen, G.; Nijman, IJ; Butler, D.; Claes, G.; Costessi, A.; et al.2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 9, (2015), pp. 1270)
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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2 Zazo Seco, C.; Castro, L.S. de; Nierop, J.W. van; Morin, M.; Jhangiani, S.; Verver, E.J.; ; Maiwald, N.; Wesdorp, F.M.; ; et al.2015, Article / Letter to editor (American Journal of Human Genetics, vol. 97, iss. 5, (2015), pp. 647-660)
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer Kuchenbaecker, K.B.; Ramus, S.J.; Tyrer, J.; Lee, A.; Shen, H.C.; Beesley, J.; Lawrenson, K.; McGuffog, L.; Healey, S.; Lee, J.M.; et al.2015, Article / Letter to editor (Nature Genetics, vol. 47, iss. 2, (2015), pp. 164-171)
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Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1 Post, R.S. van der; Vogelaar, I.P.; ; Kolk, L.E. van der; Cats, A.; Hest, L.P. van; Sijmons, R.; Aalfs, C.M.; Ausems, M.G.; Garcia, E.B.; et al.2015, Article / Letter to editor (Gastroenterology, vol. 149, iss. 4, (2015), pp. 897-906.e19)
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Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers Post, R.S. van der; Vogelaar, I.P.; Carneiro, F.; Guilford, P.; Huntsman, D.; ; Caldas, C.; Schreiber, K.E.; Hardwick, R.H.; Ausems, M.G.E.M.; et al.2015, Article / Letter to editor (Journal of Medical Genetics, vol. 52, iss. 6, (2015), pp. 361-374)
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