| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature genetics 44 (12), 1370-1374, 2012 | 654 | 2012 |
| Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017 | 533 | 2017 |
| 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 | 398 | 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 | 381 | 2014 |
| 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 | 232 | 2013 |
| Paternally Inherited IGF2 Mutation and Growth Restriction M Begemann, B Zirn, G Santen, E Wirthgen, L Soellner, HM Büttel, ... New England Journal of Medicine 373 (4), 349-356, 2015 | 231 | 2015 |
| 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 | 203 | 2015 |
| Morphine glucuronidation in preterm neonates, infants and children younger than 3 years CAJ Knibbe, EHJ Krekels, JN van den Anker, J DeJongh, GWE Santen, ... Clinical pharmacokinetics 48, 371-385, 2009 | 176 | 2009 |
| Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ... Nature Neuroscience 20 (8), 1043-1051, 2017 | 175 | 2017 |
| De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 152 | 2017 |
| Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 150 | 2020 |
| Skewed X-inactivation is common in the general female population E Shvetsova, A Sofronova, R Monajemi, K Gagalova, HHM Draisma, ... European Journal of Human Genetics 27 (3), 455-465, 2019 | 124 | 2019 |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome EPJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine, 1, 2018 | 122 | 2018 |
| The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families MD Fountain, E Aten, MT Cho, J Juusola, MA Walkiewicz, JW Ray, F Xia, ... Genetics in Medicine 19 (1), 45-52, 2016 | 121 | 2016 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 115 | 2022 |
| Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis AL Fenwick, M Kliszczak, F Cooper, J Murray, L Sanchez-Pulido, ... The American Journal of Human Genetics 99 (1), 125-138, 2016 | 113 | 2016 |
| The ARID1B phenotype: What we have learned so far GWE Santen, J Clayton‐Smith, ARID1B‐CSS consortium American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014 | 112 | 2014 |
| Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ... Elife 6, e25730, 2017 | 108 | 2017 |
| 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 | 102 | 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 | 101 | 2012 |
