| Genetic pathways involved in human speech disorders J Den Hoed, SE Fisher Current Opinion in Genetics & Development 65, 103-111, 2020 | 44 | 2020 |
| 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 | 43 | 2021 |
| Molecular networks of the FOXP2 transcription factor in the brain J Den Hoed, K Devaraju, SE Fisher EMBO reports 22 (8), e52803, 2021 | 39 | 2021 |
| Functional characterization of TBR1 variants in neurodevelopmental disorder J Den Hoed, E Sollis, H Venselaar, SB Estruch, P Deriziotis, SE Fisher Scientific Reports 8 (1), 14279, 2018 | 33 | 2018 |
| The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour E Castroflorio, J Den Hoed, D Svistunova, MJ Finelli, A Cebrian-Serrano, ... Cellular and Molecular Life Sciences 78, 3503-3524, 2021 | 32 | 2021 |
| Investigating genetic links between grapheme–colour synaesthesia and neuropsychiatric traits AK Tilot, A Vino, KS Kucera, DA Carmichael, L Van Den Heuvel, ... Philosophical Transactions of the Royal Society B 374 (1787), 20190026, 2019 | 27 | 2019 |
| 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 | 26 | 2023 |
| 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 | 19 | 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 | 18 | 2022 |
| Induced pluripotent stem cells from subjects with Lesch-Nyhan disease DJ Sutcliffe, AR Dinasarapu, JE Visser, J Hoed, F Seifar, P Joshi, ... Scientific reports 11 (1), 8523, 2021 | 13 | 2021 |
| 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 | 7 | 2023 |
| PhenoScore: AI-based phenomics to quantify rare disease and genetic variation AJM Dingemans, M Hinne, KMG Truijen, L Goltstein, J van Reeuwijk, ... Nature genetics 55 (9), 1598, 2023 | 4 | 2023 |
| Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions E Sollis, J Den Hoed, M Quevedo, SB Estruch, A Vino, DHW Dekkers, ... Human Molecular Genetics 32 (9), 1497-1510, 2023 | 4 | 2023 |
| Pathogenic SATB2 missense variants affecting p. Gly392 have variable functional implications and result in diverse clinical phenotypes J Den Hoed, H Hashimoto, M Khan, F Semmekrot, KA Bosanko, ... Journal of Medical Genetics 61 (11), 1062-1067, 2024 | | 2024 |
| The chromatin remodeler CHD3 is highly expressed in mature neurons and regulates genes involved in synaptic development and function J den Hoed, MMK Wong, WJJ Claassen, L de Hoyos, L Lütje, M Heide, ... bioRxiv, 2024.04. 29.591720, 2024 | | 2024 |
| Delineating the neurobiological mechanisms involved in SETBP1-haploinsufficiency disorder using human brain organoids and transcriptomics M Wong, J den Hoed, W Claassen, L Lutje, A Elortza-Payros, B van Bon, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 461-461, 2024 | | 2024 |
| Investigating mutation-specific mechanisms of SATB2 missense variants to reveal genotype-phenotype correlations in SATB2-associated syndrome J den Hoed, F Semmekrot, K Bosanko, Y Zarate, S Fisher EUROPEAN JOURNAL OF HUMAN GENETICS 32, 459-459, 2024 | | 2024 |
| Investigating the role of CHD3 in early brain development using brain organoids W Claassen, J Den Hoed, MMK Wong, L Lütje, M Heide, WB Huttner, ... the IMPRS conference 2022, 2022 | | 2022 |
| Disentangling the molecular landscape of genetic variation of neurodevelopmental and speech disorders J Den Hoed Radboud University Nijmegen Nijmegen, 2022 | | 2022 |
| Delineating the neurobiological pathways involved in SETBP1 haploinsufficiency and related disorders using human brain organoids and transcriptomics MMK Wong, J Den Hoed, RA Kampen, W Claassen, L Lütje, M Heide, ... the Simons Searchlight and SETBP1 2022 Family & Research conference, 2022 | | 2022 |
Simon E. FisherDirector, Max Planck Institute for Psycholinguistics在 mpi.nl 的电子邮件经过验证
