| Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification JP Schouten, CJ McElgunn, R Waaijer, D Zwijnenburg, F Diepvens, ... Nucleic acids research 30 (12), e57-e57, 2002 | 3444 | 2002 |
| Biallelic inactivation of BRCA2 in Fanconi anemia NG Howlett, T Taniguchi, S Olson, B Cox, Q Waisfisz, C de Die-Smulders, ... Science 297 (5581), 606-609, 2002 | 1469 | 2002 |
| Long-term sequelae of Helicobacter pylori gastritis EJ Kuipers, AS Peņa, HPM Festen, SGM Meuwissen, AM Uyterlinde, ... The Lancet 345 (8964), 1525-1528, 1995 | 1086 | 1995 |
| Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer JMJ Piek, PJ Van Diest, RP Zweemer, JW Jansen, RJJ Poort‐Keesom, ... The Journal of Pathology: A Journal of the Pathological Society of Great …, 2001 | 1017 | 2001 |
| Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis IMBH van de Laar, RA Oldenburg, G Pals, JW Roos-Hesselink, ... Nature genetics 43 (2), 121-126, 2011 | 740 | 2011 |
| Fanconi anemia is associated with a defect in the BRCA2 partner PALB2 B Xia, JC Dorsman, N Ameziane, Y De Vries, MA Rooimans, Q Sheng, ... Nature genetics 39 (2), 159-161, 2007 | 560 | 2007 |
| The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J M Levitus, Q Waisfisz, BC Godthelp, Y Vries, S Hussain, WW Wiegant, ... Nature genetics 37 (9), 934-935, 2005 | 545 | 2005 |
| Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA JR Lo Ten Foe, MA Rooimans, L Bosnoyan-Collins, N Alon, M Wijker, ... Nature genetics 14 (3), 320-323, 1996 | 520 | 1996 |
| Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method FBL Hogervorst, PM Nederlof, JJP Gille, CJ McElgunn, M Grippeling, ... Cancer research 63 (7), 1449-1453, 2003 | 418 | 2003 |
| X-linked inheritance of Fanconi anemia complementation group B AR Meetei, M Levitus, Y Xue, AL Medhurst, M Zwaan, C Ling, ... Nature genetics 36 (11), 1219-1224, 2004 | 401 | 2004 |
| PPIB mutations cause severe osteogenesis imperfecta FS van Dijk, IM Nesbitt, EH Zwikstra, PGJ Nikkels, SR Piersma, ... The American Journal of Human Genetics 85 (4), 521-527, 2009 | 328 | 2009 |
| Classification of osteogenesis imperfecta revisited FS Van Dijk, G Pals, RR Van Rijn, PGJ Nikkels, JM Cobben European journal of medical genetics 53 (1), 1-5, 2010 | 317 | 2010 |
| Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome B Loeys, J De Backer, P Van Acker, K Wettinck, G Pals, L Nuytinck, ... Human mutation 24 (2), 140-146, 2004 | 303 | 2004 |
| Osteogenesis imperfecta: a review with clinical examples FS van Dijk, JM Cobben, A Kariminejad, A Maugeri, PGJ Nikkels, ... Molecular syndromology 2 (1), 1-20, 2011 | 299 | 2011 |
| Seroconversion for Helicobacter pylori EJ Kuipers, AS Pena, NFM Pels, E Kurz-Pohlmann, SGM Meuwissen, ... The lancet 342 (8867), 328-331, 1993 | 289 | 1993 |
| Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome IMBH van de Laar, D van der Linde, EHG Oei, PK Bos, JH Bessems, ... Journal of medical genetics 49 (1), 47-57, 2012 | 281 | 2012 |
| Searching for preeclampsia genes: the current position AMA Lachmeijer, GA Dekker, G Pals, JG Aarnoudse, LP ten Kate, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 105 (2 …, 2002 | 257 | 2002 |
| Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ... The American Journal of Human Genetics 92 (1), 88-98, 2013 | 224 | 2013 |
| PLS3 mutations in X-linked osteoporosis with fractures FS van Dijk, MC Zillikens, D Micha, M Riessland, CLM Marcelis, ... New England Journal of Medicine 369 (16), 1529-1536, 2013 | 219 | 2013 |
| A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families T Peelen, M Van Vliet, A Petrij-Bosch, R Mieremet, C Szabo, ... American journal of human genetics 60 (5), 1041, 1997 | 217 | 1997 |
