| 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 | 121 | 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 | 71 | 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 | 56 | 2020 |
| 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 | 35 | 2017 |
| 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 | 34 | 2019 |
| 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 | 33 | 2021 |
| 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 | 28 | 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 | 25 | 2018 |
| Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON AJM Dingemans, KMG Truijen, JH Kim, Z Alacam, L Faivre, KM Collins, ... European Journal of Human Genetics 30 (3), 271-281, 2022 | 17 | 2022 |
| 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 | 16 | 2021 |
| 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 | 16 | 2019 |
| 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 | 14 | 2021 |
| 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 | 12 | 2021 |
| 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 | 12 | 2018 |
| The impact of manuscript learning vs. video learning on a surgeon's confidence in performing a difficult procedure CA Reck-Burneo, AJM Dingemans, VA Lane, J Cooper, MA Levitt, ... Frontiers in Surgery 5, 67, 2018 | 10 | 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 | 8 | 2022 |
| Primary or redo posterior sagittal anorectoplasty without a stoma: to feed or not to feed? CA Reck-Burneo, C Skerrit, A Dingemans, VA Lane, AV Sanchez, ... European Journal of Pediatric Surgery 29 (02), 150-152, 2019 | 8 | 2019 |
| 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 | 7 | 2022 |
| Behavior and cognitive functioning in Witteveen–Kolk syndrome LCM van Dongen, E Wingbermühle, AJM Dingemans, AG Bos‐Roubos, ... American Journal of Medical Genetics Part A 182 (10), 2384-2390, 2020 | 6 | 2020 |
| Health literacy and health-related quality of life in patients with anorectal malformations: A comparison between a charity hospital in Honduras and a tertiary care center in … AJM Dingemans, W Krois, JC Rios, RJ Wood, MA Levitt, CA Reck-Burneo Journal of Pediatric Surgery 53 (10), 1951-1954, 2018 | 6 | 2018 |
