Presentation
Resources & publications
-
2017Journal (source)Am J Med Genet APrenatal and postnatal presentations of corpus callosum agenesis with polymic...
-
2025Journal (source)Development
Differential contribution of P73+ Cajal-Retzius cells and Reelin to cortical ...
-
2024Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants cause dominant neuronal migratio...
-
2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
-
2024Journal (source)J Clin Invest
De novo monoallelic Reelin missense variants act in a dominant-negative manne...
-
2016Journal (source)Am J Hum Genet
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
-
2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
-
2023Journal (source)Int J Mol Sci
Activation of the PI3K/AKT/mTOR Pathway in Cajal-Retzius Cells Leads to Their...
-
2021Journal (source)bioRxiv
Functional characterization of RELN missense mutations involved in recessive ...
-
2019Journal (source)Eur J Med Genet
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr...
-
Journal (source)J Neuropathol Exp Neurol
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela...
-
2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
-
2020Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
-
2019Journal (source)Brain
Heterogeneous clinical phenotypes and cerebral malformations reflected by rot...
-
2019Journal (source)Neurol Genet
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic ence...
-
2019Journal (source)Neuron
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypopl...
-
2019Journal (source)Eur J Med Genet
Further refinement of COL4A1 and COL4A2 related cortical malformations.
-
2019Journal (source)Eur J Med Genet
Mutations in TBR1 gene leads to cortical malformations and intellectual disab...