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
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Implementation of human genetic counseling in the MZEB (Medical Center for Adults with disabilities) at the psychiatric LVR Clinic Bedburg-Hau.
Maliszewski-Makowka D et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics.
Lin JR et al.
Epilepsia, 2022
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
Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.
Takeshita S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
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
The DCX-domain tandems of doublecortin and doublecortin-like kinase.
Kim MH et al.
Nature Structural Biology, 2003
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Demelas L et al.
Neurology, 2001
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
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