Florian Kreuder

A whole organism small molecule screen identifies novel regulators of pancreatic endocrine development

Christian SM Helker, Sri-Teja Mullapudi, Laura M. Mueller et al. · Development · 2019 · 42 citations · Full text

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Allelic Variant, Translational Biology, Genetic Disorder +10

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Alina Kurolap, Florian Kreuder, Claudia Gonzaga‐Jauregui et al. · The American Journal of Human Genetics · 2022 · 21 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Molecular Neuroscience +12

An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA

Alon M. Douek, Mitra Amiri Khabooshan, Jason Henry et al. · International Journal of Molecular Sciences · 2021 · 13 citations · Full text