Daniëlle G.M. Bosch

Novel genetic causes for cerebral visual impairment

Daniëlle G.M. Bosch, F. Nienke Boonstra, Nicole de Leeuw et al. · European Journal of Human Genetics · 2015 · 152 citations · Full text

Cerebral Visual Impairment, Genetic Disorder, Genetic Epidemiology +6

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga‐Jauregui et al. · The American Journal of Human Genetics · 2014 · 139 citations · Full text

Ophthalmology, Genetic Disorder, Genetics +3

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +11

<i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

Wei Ba, Yan Yan, Margot R.F. Reijnders et al. · Human Molecular Genetics · 2015 · 104 citations · Full text

Brain Development, Synaptic Transmission, Genetics +25

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández et al. · The American Journal of Human Genetics · 2016 · 92 citations · Full text

Engineering, Genetic Disorder, Medicine +8