Lot Snijders Blok

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang et al. · Neuron · 2020 · 222 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhães et al. · Nature · 2023 · 152 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling et al. · Human Genetics · 2018 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17