| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 400 | 2017 |
| CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype JEH Bergman, N Janssen, LH Hoefsloot, MCJ Jongmans, RMW Hofstra, ... Journal of medical genetics 48 (5), 334-342, 2011 | 324 | 2011 |
| Mutation update on the CHD7 gene involved in CHARGE syndrome N Janssen, JEH Bergman, MA Swertz, L Tranebjaerg, M Lodahl, ... Human mutation 33 (8), 1149-1160, 2012 | 283 | 2012 |
| Additive manufacturing of high-entropy alloys by laser processing V Ocelík, N Janssen, SN Smith, JTM De Hosson Jom 68, 1810-1818, 2016 | 155 | 2016 |
| A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome JEH Bergman, N Janssen, AM van der Sloot, HEK de Walle, J Schoots, ... Human mutation 33 (8), 1251-1260, 2012 | 80 | 2012 |
| The Cardiac Phenotype in Patients With a CHD7 Mutation N Corsten-Janssen, WS Kerstjens-Frederikse, GJ du Marchie Sarvaas, ... Circulation: Cardiovascular Genetics 6 (3), 248-254, 2013 | 73 | 2013 |
| Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging C Deden, K Neveling, D Zafeiropopoulou, C Gilissen, R Pfundt, T Rinne, ... Prenatal diagnosis 40 (8), 972-983, 2020 | 60 | 2020 |
| More clinical overlap between 22q11. 2 deletion syndrome and CHARGE syndrome than often anticipated N Corsten-Janssen, SC Saitta, LH Hoefsloot, DM McDonald-McGinn, ... Molecular syndromology 4 (5), 235-245, 2013 | 54 | 2013 |
| Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 51 | 2019 |
| A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound N Corsten‐Janssen, K Bouman, JCD Diphoorn, AJ Scheper, R Kinds, ... Prenatal diagnosis 40 (10), 1300-1309, 2020 | 39 | 2020 |
| Otocephaly-dysgnathia complex: description of four cases and confirmation of the role of OTX2 O Patat, CMA van Ravenswaaij-Arts, J Tantau, N Corsten-Janssen, ... Molecular Syndromology 4 (6), 302-305, 2013 | 35 | 2013 |
| Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature EF Kauvar, BD Solomon, CJR Curry, AJ Van Essen, N Janssen, A Dutra, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2010 | 34 | 2010 |
| Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants JL Granadillo, WK Chung, L Hecht, N Corsten‐Janssen, D Wegner, ... Human Mutation 39 (12), 1875-1884, 2018 | 29 | 2018 |
| Clinical and molecular effects of CHD7 in the heart N Corsten‐Janssen, PJ Scambler American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 23 | 2017 |
| Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity N Corsten-Janssen, CMA van Ravenswaaij-Arts, L Kapusta IJC Heart & Vasculature 12, 21-25, 2016 | 21 | 2016 |
| De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus S Galosi, BH Edani, S Martinelli, H Hansikova, EA Eklund, C Caputi, ... Brain 145 (1), 208-223, 2022 | 17 | 2022 |
| Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy M Plantinga, L Zwienenberg, E van Dijk, H Breet, J Diphoorn, J El Mecky, ... Prenatal Diagnosis 42 (6), 762-774, 2022 | 16 | 2022 |
| CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects N Corsten‐Janssen, GJ du Marchie Sarvaas, WS Kerstjens‐Frederikse, ... American Journal of Medical Genetics Part A 164 (12), 3003-3009, 2014 | 14 | 2014 |
| Deciphering Developmental Disorders Study FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... High rate of recurrent de novo mutations in developmental and epileptic …, 2017 | 13 | 2017 |
| Definition of 5q11. 2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes C Snijders Blok, N Corsten‐Janssen, DR FitzPatrick, C Romano, ... American Journal of Medical Genetics Part A 164 (11), 2843-2848, 2014 | 12 | 2014 |
