| Chronic central serous chorioretinopathy: long-term follow-up and vision-related quality of life MB Breukink, AJM Dingemans, AI den Hollander, JEE Keunen, ... Clinical Ophthalmology, 39-46, 2016 | 139 | 2016 |
| KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in medicine 21 (4), 850-860, 2019 | 93 | 2019 |
| Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain-specific neurodevelopmental disorders S Barbosa, S Greville-Heygate, M Bonnet, A Godwin, ... The American Journal of Human Genetics 106 (3), 338-355, 2020 | 74 | 2020 |
| Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ... The American Journal of Human Genetics 108 (6), 1053-1068, 2021 | 46 | 2021 |
| De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism IJ Diets, R van der Donk, K Baltrunaite, E Waanders, MRF Reijnders, ... The American Journal of Human Genetics 104 (4), 758-766, 2019 | 40 | 2019 |
| Redo pull-through surgery in Hirschsprung disease: short-term clinical outcome AJM Dingemans, HJJ van der Steeg, R Rassouli-Kirchmeier, MW Linssen, ... Journal of pediatric surgery 52 (9), 1446-1450, 2017 | 40 | 2017 |
| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction J Den Hoed, E de Boer, N Voisin, AJM Dingemans, N Guex, L Wiel, ... The American Journal of Human Genetics 108 (2), 346-356, 2021 | 38 | 2021 |
| A structured bowel management program for patients with severe functional constipation can help decrease emergency department visits, hospital admissions, and healthcare costs CA Reck-Burneo, A Vilanova-Sanchez, AC Gasior, AJM Dingemans, ... Journal of Pediatric Surgery 53 (9), 1737-1741, 2018 | 27 | 2018 |
| Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON AJM Dingemans, KMG Truijen, JH Kim, Z Alaçam, L Faivre, KM Collins, ... European Journal of Human Genetics 30 (3), 271-281, 2022 | 25 | 2022 |
| The use of rotational fluoroscopy and 3-D reconstruction in the diagnosis and surgical planning for complex cloacal malformations CA Reck-Burneo, V Lane, DG Bates, M Hogan, B Thompson, A Gasior, ... Journal of Pediatric Surgery 54 (8), 1590-1594, 2019 | 23 | 2019 |
| Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype M Balasubramanian, AJM Dingemans, S Albaba, R Richardson, TM Yates, ... European Journal of Human Genetics 29 (4), 625-636, 2021 | 22 | 2021 |
| PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework AJM Dingemans, M Hinne, KMG Truijen, L Goltstein, J Van Reeuwijk, ... Nature Genetics 55 (9), 1598-1607, 2023 | 20* | 2023 |
| Human disease genes website series: an international, open and dynamic library for up‐to‐date clinical information AJM Dingemans, DE Stremmelaar, LELM Vissers, S Jansen, ... American Journal of Medical Genetics Part A 185 (4), 1039-1046, 2021 | 19 | 2021 |
| Perioperative complications of transanal pull-through surgery for Hirschsprung's disease M Pakarinen European Journal of Pediatric Surgery 28 (02), 152-155, 2018 | 19 | 2018 |
| The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 AJM Dingemans, KMG Truijen, S van de Ven, R Bernier, EMHF Bongers, ... Translational psychiatry 12 (1), 421, 2022 | 16 | 2022 |
| Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein E De Boer, CW Ockeloen, RA Kampen, JE Hampstead, AJM Dingemans, ... Genetics in Medicine 24 (10), 2051-2064, 2022 | 15 | 2022 |
| The role of laparoscopy in anorectal malformations RM Rentea, DR Halleran, RJ Wood, MA Levitt European Journal of Pediatric Surgery 30 (02), 156-163, 2020 | 15 | 2020 |
| Sociodemographics and the impact of a colostomy to indigent families and children with colorectal disorders in Honduras W Krois, AJM Dingemans, PX Hernández, ML Metzelder, JC Rios, ... Journal of Pediatric Surgery 53 (4), 841-846, 2018 | 15 | 2018 |
| Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome J Van der Spek, J Den Hoed, LS Blok, AJM Dingemans, D Schijven, ... Genetics in Medicine 24 (6), 1283-1296, 2022 | 13* | 2022 |
| Quantitative facial phenotyping for Koolen-de Vries and 22q11. 2 deletion syndrome AJM Dingemans, DE Stremmelaar, R van der Donk, LELM Vissers, ... European Journal of Human Genetics 29 (9), 1418-1423, 2021 | 12 | 2021 |
