Joost Kummeling

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun et al. · Molecular Psychiatry · 2020 · 67 citations · Full text

Setd1a Haploinsufficiency, Developmental Biology, Genetic Disorder +11

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

Médéric Jeanne, Marie‐Laure Vuillaume, Dévina C. Ung et al. · Human Genetics · 2021 · 18 citations · Full text

Developmental Biology, Brain Development, Medicine +10

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada et al. · The American Journal of Human Genetics · 2024 · 16 citations · Full text

Allelic Variant, Engineering, Genotype-phenotype Associations +12

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Lottie D. Morison, Milou G. P. Kennis, Dmitrijs Rots et al. · Journal of Medical Genetics · 2024 · 14 citations · Full text

GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome

Florent Colin, Pauline Burger, Timothée Mazzucotelli et al. · Genetics in Medicine Open · 2023 · 10 citations · Full text