| Germline KRAS mutations cause Noonan syndrome S Schubbert, M Zenker, SL Rowe, S Böll, C Klein, G Bollag, ... Nature genetics 38 (3), 331-336, 2006 | 850 | 2006 |
| Diagnostic genome profiling in mental retardation BBA De Vries, R Pfundt, M Leisink, DA Koolen, LELM Vissers, IM Janssen, ... The American Journal of Human Genetics 77 (4), 606-616, 2005 | 688 | 2005 |
| Guidelines for diagnostic next-generation sequencing G Matthijs, E Souche, M Alders, A Corveleyn, S Eck, I Feenstra, V Race, ... European Journal of Human Genetics 24 (1), 2-5, 2016 | 635 | 2016 |
| A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ... Nature genetics 38 (9), 999-1001, 2006 | 523 | 2006 |
| Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome T Kleefstra, HG Brunner, J Amiel, AR Oudakker, WM Nillesen, A Magee, ... The American Journal of Human Genetics 79 (2), 370-377, 2006 | 427 | 2006 |
| Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length‐dependent axonal degeneration in the absence of demyelination and inflammation JY Garbern, DA Yool, GJ Moore, IB Wilds, MW Faulk, M Klugmann, ... Brain 125 (3), 551-561, 2002 | 328 | 2002 |
| 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 | 324 | 2009 |
| TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands KRM van der Meij, EA Sistermans, MVE Macville, SJC Stevens, CJ Bax, ... The American Journal of Human Genetics 105 (6), 1091-1101, 2019 | 279 | 2019 |
| 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome L Willatt, J Cox, J Barber, ED Cabanas, A Collins, D Donnai, ... The American Journal of Human Genetics 77 (1), 154-160, 2005 | 265 | 2005 |
| L1 retrotransposition can occur early in human embryonic development JAJM van den Hurk, IC Meij, M del Carmen Seleme, H Kano, ... Human molecular genetics 16 (13), 1587-1592, 2007 | 232 | 2007 |
| Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) DA Koolen, WM Nillesen, MHA Versteeg, GFM Merkx, N Knoers, M Kets, ... Journal of medical genetics 41 (12), 892-899, 2004 | 217 | 2004 |
| Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome T Kleefstra, M Smidt, MJG Banning, AR Oudakker, H Van Esch, ... Journal of medical genetics 42 (4), 299-306, 2005 | 211 | 2005 |
| 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 | 209 | 2013 |
| CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations NMML Stikkelbroeck, LH Hoefsloot, IJ De Wijs, BJ Otten, ARMM Hermus, ... The Journal of Clinical Endocrinology & Metabolism 88 (8), 3852-3859, 2003 | 207 | 2003 |
| Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis H Holstege, W Pfeiffer, D Sie, M Hulsman, TJ Nicholas, CC Lee, T Ross, ... Genome research 24 (5), 733-742, 2014 | 203 | 2014 |
| Genomic microarrays in mental retardation: a practical workflow for diagnostic applications DA Koolen, R Pfundt, N de Leeuw, JY Hehir‐Kwa, WM Nillesen, I Neefs, ... Human mutation 30 (3), 283-292, 2009 | 198 | 2009 |
| Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ... Neurology 83 (21), 1898-1905, 2014 | 194 | 2014 |
| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus G Beunders, E Voorhoeve, C Golzio, LM Pardo, JA Rosenfeld, ... The American Journal of Human Genetics 92 (2), 210-220, 2013 | 176 | 2013 |
| Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact D Oepkes, GC Page‐Christiaens, CJ Bax, MN Bekker, CM Bilardo, ... Prenatal Diagnosis 36 (12), 1083-1090, 2016 | 172 | 2016 |
| EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta FS Van Dijk, PH Byers, R Dalgleish, F Malfait, A Maugeri, M Rohrbach, ... European Journal of Human Genetics 20 (1), 11-19, 2012 | 160 | 2012 |
