Rapid KRAS, EGFR, BRAF and PIK3CA mutation analysis of fine needle aspirates from non-small-cell lung cancer using allele-specific qPCR R Van Eijk, J Licht, M Schrumpf, MT Yazdi, D Ruano, GI Forte, ... PloS one 6 (3), e17791, 2011 | 198 | 2011 |
Functional gene group analysis reveals a role of synaptic heterotrimeric G proteins in cognitive ability D Ruano, GR Abecasis, B Glaser, ES Lips, LN Cornelisse, APH de Jong, ... The American Journal of Human Genetics 86 (2), 113-125, 2010 | 114 | 2010 |
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer FA Elsayed, CM Kets, D Ruano, B Van Den Akker, AR Mensenkamp, ... European Journal of Human Genetics 23 (8), 1080-1084, 2015 | 85 | 2015 |
Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers AML Jansen, T Van Wezel, BE Van Den Akker, MV Garcia, D Ruano, ... European Journal of Human Genetics 24 (7), 1089-1092, 2016 | 83 | 2016 |
Revisiting thyroid hormones in schizophrenia NC Santos, P Costa, D Ruano, A Macedo, MJ Soares, J Valente, ... Journal of thyroid research 2012, 2012 | 68 | 2012 |
Whole-Exome Sequencing Studies of Parathyroid Carcinomas Reveal Novel PRUNE2 Mutations, Distinctive Mutational Spectra Related to APOBEC-Catalyzed … W Yu, JR McPherson, M Stevenson, R van Eijk, HL Heng, P Newey, ... The Journal of Clinical Endocrinology & Metabolism 100 (2), E360-E364, 2015 | 65 | 2015 |
Association of the gene encoding neurogranin with schizophrenia in males D Ruano, YS Aulchenko, A Macedo, MJ Soares, J Valente, MH Azevedo, ... Journal of psychiatric research 42 (2), 125-133, 2008 | 58 | 2008 |
Integral analysis of p53 and its value as prognostic factor in sporadic colon cancer AF Sarasqueta, GI Forte, WE Corver, NF de Miranda, D Ruano, R van Eijk, ... BMC cancer 13 (1), 277, 2013 | 49 | 2013 |
Genomic characterization of vulvar (pre) cancers identifies distinct molecular subtypes with prognostic significance LS Nooij, NT ter Haar, D Ruano, N Rakislova, T van Wezel, VT Smit, ... Clinical Cancer Research 23 (22), 6781-6789, 2017 | 48 | 2017 |
Genome haploidisation with chromosome 7 retention in oncocytic follicular thyroid carcinoma WE Corver, D Ruano, K Weijers, WCE Den Hartog, ... PloS one 7 (6), e38287, 2012 | 47 | 2012 |
Molecular analysis of gene fusions in bone and Soft tissue tumors by anchored multiplex PCR–Based targeted next-generation sequencing SW Lam, AM Cleton-Jansen, AHG Cleven, D Ruano, T van Wezel, ... The Journal of Molecular Diagnostics 20 (5), 653-663, 2018 | 44 | 2018 |
Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration S Rollinson, P Rizzu, S Sikkink, M Baker, N Halliwell, J Snowden, ... Neurobiology of aging 30 (4), 656-665, 2009 | 35 | 2009 |
Increased frequency of 20q gain and copy‐neutral loss of heterozygosity in mismatch repair proficient familial colorectal carcinomas A Middeldorp, R Van Eijk, J Oosting, GI Forte, M van Puijenbroek, ... International journal of cancer 130 (4), 837-846, 2012 | 30 | 2012 |
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis FJ Hes, D Ruano, M Nieuwenhuis, CM Tops, M Schrumpf, M Nielsen, ... Journal of medical genetics 51 (1), 55-60, 2014 | 28 | 2014 |
The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: Evidence from a large collaborative study totaling 4,963 Subjects TS Rizzi, A Arias‐Vasquez, N Rommelse, J Kuntsi, R Anney, P Asherson, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011 | 26 | 2011 |
Recurrent coding sequence variation explains only a small fraction of the genetic architecture of colorectal cancer MN Timofeeva, B Kinnersley, SM Farrington, N Whiffin, C Palles, V Svinti, ... Scientific reports 5 (1), 1-10, 2015 | 23 | 2015 |
Distinct patterns of somatic mosaicism in the APC gene in neoplasms from patients with unexplained adenomatous polyposis AML Jansen, S Crobach, WRR Geurts-Giele, BEWM van den Akker, ... Gastroenterology 152 (3), 546-549. e3, 2017 | 22 | 2017 |
Near‐haploidization significantly associates with oncocytic adrenocortical, thyroid, and parathyroid tumors but not with mitochondrial DNA mutations WE Corver, T van Wezel, K Molenaar, M Schrumpf, B van den Akker, ... Genes, Chromosomes and Cancer 53 (10), 833-844, 2014 | 20 | 2014 |
Validation and implementation of BRCA1/2 variant screening in ovarian tumor tissue MM de Jonge, D Ruano, R van Eijk, N van der Stoep, M Nielsen, ... The Journal of Molecular Diagnostics 20 (5), 600-611, 2018 | 12 | 2018 |
Molecular background of colorectal tumors from patients with Lynch syndrome associated with germline variants in PMS2 W Sanne, TC van Bavel, AML Jansen, E Gómez-García, FJ Hes, ... Gastroenterology 155 (3), 844-851, 2018 | 12 | 2018 |