| Sequential cancer mutations in cultured human intestinal stem cells J Drost, RH Van Jaarsveld, B Ponsioen, C Zimberlin, R Van Boxtel, ... Nature 521 (7550), 43-47, 2015 | 1057 | 2015 |
| Oral mucosal organoids as a potential platform for personalized cancer therapy E Driehuis, S Kolders, S Spelier, K Lõhmussaar, SM Willems, LA Devriese, ... Cancer discovery 9 (7), 852-871, 2019 | 269 | 2019 |
| Ongoing chromosomal instability and karyotype evolution in human colorectal cancer organoids ACF Bolhaqueiro, B Ponsioen, B Bakker, SJ Klaasen, E Kucukkose, ... Nature genetics 51 (5), 824-834, 2019 | 191 | 2019 |
| Difference makers: chromosomal instability versus aneuploidy in cancer RH van Jaarsveld, GJPL Kops Trends in Cancer 2 (10), 561-571, 2016 | 71 | 2016 |
| Nuclear chromosome locations dictate segregation error frequencies SJ Klaasen, MA Truong, RH van Jaarsveld, I Koprivec, V Štimac, ... Nature 607 (7919), 604-609, 2022 | 50 | 2022 |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome MA Cousin, BA Creighton, KA Breau, RC Spillmann, E Torti, S Dontu, ... Nature genetics 53 (7), 1006-1021, 2021 | 46 | 2021 |
| Genetics-first approach improves diagnostics of ESKD patients< 50 years old R Snoek, RH van Jaarsveld, TQ Nguyen, EDJ Peters, MG Elferink, ... Nephrology Dialysis Transplantation 37 (2), 349-357, 2022 | 34 | 2022 |
| HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome SC Reichert, R Li, S A Turner, RH Van Jaarsveld, MPG Massink, ... Clinical Genetics 98 (1), 91-98, 2020 | 27 | 2020 |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations LH Rodan, RC Spillmann, HT Kurata, SM Lamothe, J Maghera, RA Jamra, ... Genetics in medicine 23 (10), 1922-1932, 2021 | 26 | 2021 |
| De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy C Klöckner, H Sticht, P Zacher, B Popp, HE Babcock, DP Bakker, ... Genetics in Medicine 23 (4), 653-660, 2021 | 25 | 2021 |
| Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder S Cuinat, M Nizon, B Isidor, A Stegmann, RH van Jaarsveld, ... Genetics in Medicine 24 (8), 1774-1780, 2022 | 18 | 2022 |
| Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay Y Huang, X Mao, RH van Jaarsveld, L Shu, PA Terhal, Z Jia, H Xi, Y Peng, ... Human molecular genetics 29 (9), 1537-1546, 2020 | 18 | 2020 |
| Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood MA Levy, DB Beck, K Metcalfe, S Douzgou, S Sithambaram, T Cottrell, ... NPJ Genomic Medicine 6 (1), 92, 2021 | 15 | 2021 |
| Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia AM Muir, JF Gardner, RH van Jaarsveld, IM de Lange, JJ van der Smagt, ... Genetics in Medicine 23 (5), 881-887, 2021 | 15 | 2021 |
| Live imaging of cell division in 3D stem-cell organoid cultures ACF Bolhaqueiro, RH van Jaarsveld, B Ponsioen, RM Overmeer, ... Methods in cell biology 145, 91-106, 2018 | 15 | 2018 |
| CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD L Pavinato, A Delle Vedove, D Carli, M Ferrero, S Carestiato, JL Howe, ... Brain 146 (2), 534-548, 2023 | 13 | 2023 |
| A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes EG Seaby, D Smedley, ALT Tavares, H Brittain, RH van Jaarsveld, ... Genetics in Medicine 24 (8), 1697-1707, 2022 | 12 | 2022 |
| PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production F Ebstein, S Küry, V Most, C Rosenfelt, MP Scott-Boyer, GM van Woerden, ... Science translational medicine 15 (698), eabo3189, 2023 | 11 | 2023 |
| Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature RH van Jaarsveld, J Reilly, MC Cornips, MA Hadders, E Agolini, ... Genetics in Medicine 25 (1), 49-62, 2023 | 11 | 2023 |
| Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome A Ramirez-Martinez, Y Zhang, MJ Van den Boogaard, JR McAnally, ... The Journal of Clinical Investigation 132 (11), 2022 | 11 | 2022 |
Geert J.P.L. KopsHubrecht InstituteVerified email at hubrecht.eu
