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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380, 2012 | 410 | 2012 |
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ... Nature genetics 46 (2), 188-193, 2014 | 390 | 2014 |
Implementing pharmacogenomics in Europe: design and implementation strategy of the ubiquitous pharmacogenomics consortium CH van der Wouden, A Cambon‐Thomsen, E Cecchin, KC Cheung, ... Clinical Pharmacology & Therapeutics 101 (3), 341-358, 2017 | 315 | 2017 |
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study JJ Swen, CH van der Wouden, LEN Manson, H Abdullah-Koolmees, ... The Lancet 401 (10374), 347-356, 2023 | 284 | 2023 |
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ... Journal of medical genetics 43 (2), 180-186, 2006 | 266 | 2006 |
Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ... The American Journal of Human Genetics 98 (5), 1020-1029, 2016 | 262 | 2016 |
Comprehensive Detection of Genomic Duplications and Deletions in the< i> DMD</i> Gene, by Use of Multiplex Amplifiable Probe Hybridization S White, M Kalf, Q Liu, M Villerius, D Engelsma, M Kriek, E Vollebregt, ... The American Journal of Human Genetics 71 (2), 365-374, 2002 | 245 | 2002 |
C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ... Human mutation 34 (11), 1519-1528, 2013 | 239 | 2013 |
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Y Sun, B Bak, N Schoenmakers, ASP van Trotsenburg, W Oostdijk, ... Nature genetics 44 (12), 1375-1381, 2012 | 233 | 2012 |
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase SAJL Oberstein, M Kriek, SJ White, ME Kalf, K Szuhai, JT den Dunnen, ... The American Journal of Human Genetics 79 (3), 562-566, 2006 | 218 | 2006 |
Next‐generation diagnostics: gene panel, exome, or whole genome? Y Sun, CAL Ruivenkamp, MJV Hoffer, T Vrijenhoek, M Kriek, ... Human mutation 36 (6), 648-655, 2015 | 209 | 2015 |
Two‐color multiplex ligation‐dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses SJ White, GR Vink, M Kriek, W Wuyts, J Schouten, B Bakker, MH Breuning, ... Human mutation 24 (1), 86-92, 2004 | 188 | 2004 |
Decreased mortality of ischaemic heart disease among carriers of haemophilia A Šrámek, M Kriek, FR Rosendaal The Lancet 362 (9381), 351-354, 2003 | 165 | 2003 |
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 135 | 2013 |
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects T Vrijenhoek, K Kraaijeveld, M Elferink, J De Ligt, E Kranendonk, ... European Journal of Human Genetics 23 (9), 1142-1150, 2015 | 107 | 2015 |
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability GWE Santen, M Kriek, H van Attikum Epigenetics 7 (11), 1219-1224, 2012 | 102 | 2012 |
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid … Y Sun, R Almomani, GJ Breedveld, GWE Santen, E Aten, DJ Lefeber, ... Human mutation 34 (5), 706-713, 2013 | 86 | 2013 |
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia M Pennings, MI Schouten, J van Gaalen, RPP Meijer, ST de Bot, M Kriek, ... European Journal of Human Genetics 28 (1), 40-49, 2020 | 78 | 2020 |
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and … M Kriek, SJ White, K Szuhai, J Knijnenburg, GJB van Ommen, ... European journal of human genetics 14 (2), 180-189, 2006 | 76 | 2006 |