Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation.
Manka SW et al.
Embo Reports, 2020
33051979 (PubMed )
Supplement: EMBR-21-e51534-s001.pdf
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2013
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.
Chou A et al.
Clinical Genetics, 2009
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Leger PL et al.
Neurogenetics, 2008
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
Kappeler C et al.
The Journal of Comparative Neurology, 2007
Missense mutations resulting in type 1 lissencephaly.
Reiner O et al.
Cellular and Molecular Life Sciences : Cmls, 2005
The DCX-domain tandems of doublecortin and doublecortin-like kinase.
Kim MH et al.
Nature Structural Biology, 2003
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Matsumoto N et al.
European Journal of Human Genetics : Ejhg, 2001
Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin.
Yoshiura K et al.
Journal of Neurobiology, 2000
Doublecortin mutations cluster in evolutionarily conserved functional domains.
Sapir T et al.
Human Molecular Genetics, 2000
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
des Portes V et al.
Human Molecular Genetics, 1998
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