Presentation
Scientific Publications
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2025
Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregu..., Springer Science and Business Media LLC
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2023
A human dynein heavy chain mutation impacts cortical progenitor cells causing..., Neurobiol Dis
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2023
Tubulin mutations in human neurodevelopmental disorders, Elsevier BV
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2021
Human neuropathology confirms projection neuron and interneuron defects and d..., Eur J Med Genet
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2018
Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet
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2018
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet
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2018
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet
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2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela..., J Neuropathol Exp Neurol
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2017
Prenatal and postnatal presentations of corpus callosum agenesis with polymic..., Am J Med Genet A
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2016
A novel recurrent LIS1 splice site mutation in classic lissencephaly., Am J Med Genet A
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2016
Recurrent KIF2A mutations are responsible for classic lissencephaly., Neurogenetics