| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 271 | 2015 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 146 | 2020 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... Nature communications 9 (1), 4619, 2018 | 101 | 2018 |
| De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder L Snijders Blok, SM Hiatt, KM Bowling, JW Prokop, KL Engel, JN Cochran, ... Human genetics 137, 375-388, 2018 | 67 | 2018 |
| Aberrant phase separation and nucleolar dysfunction in rare genetic diseases MA Mensah, H Niskanen, AP Magalhaes, S Basu, M Kircher, HL Sczakiel, ... Nature 614 (7948), 564-571, 2023 | 51 | 2023 |
| Mutation update for the SATB2 gene YA Zarate, KA Bosanko, AR Caffrey, JA Bernstein, DM Martin, ... Human mutation 40 (8), 1013-1029, 2019 | 48 | 2019 |
| NBEA: Developmental disease gene with early generalized epilepsy phenotypes MS Mulhern, C Stumpel, N Stong, HG Brunner, L Bier, N Lippa, J Riviello, ... Annals of neurology 84 (5), 788-795, 2018 | 44 | 2018 |
| De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ... The American Journal of Human Genetics 105 (2), 403-412, 2019 | 43 | 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 | 38 | 2021 |
| A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ... European Journal of Human Genetics 28 (10), 1422-1431, 2020 | 33 | 2020 |
| Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype P Zanoni, K Steindl, D Sengupta, P Joset, A Bahr, H Sticht, ... Genetics in Medicine 23 (8), 1474-1483, 2021 | 31 | 2021 |
| Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ... The American Journal of Human Genetics 107 (4), 727-742, 2020 | 27 | 2020 |
| DDX3X-related neurodevelopmental disorder B Johnson-Kerner, L Suit, J Thomas, T Kleefstra, EH Sherr | 22 | 2020 |
| Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple … L Snijders Blok, A Vino, J Den Hoed, HR Underhill, D Monteil, H Li, ... Genetics in Medicine 23 (3), 534-542, 2021 | 17 | 2021 |
| 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 | 11 | 2022 |
| A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder LS Blok, J Verseput, D Rots, H Venselaar, AM Innes, C Stumpel, K Õunap, ... Human Genetics and Genomics Advances 4 (1), 2023 | 6 | 2023 |
| Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2‐associated syndrome L Snijders Blok, YM Goosen, L van Haaften, K van Hulst, SE Fisher, ... Genes, Brain and Behavior 20 (7), e12761, 2021 | 5 | 2021 |
| CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun 9: 4619 L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ... | 5 | 2018 |
| Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ... Nature communications 10 (1), 883, 2019 | 3 | 2019 |
| POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum A Rossi, LS Blok, S Neuser, C Klöckner, K Platzer, LO Faivre, H Weigand, ... Clinical genetics 104 (2), 186-197, 2023 | 2 | 2023 |
