Associated Papers
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.
Furukawa S et al.
Journal of Human Genetics, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.
Saarela A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3.
Abe K et al.
Neurology. Genetics, 2022
Recessive LAMC3 mutations cause malformations of occipital cortical development.
Barak T et al.
Nature Genetics, 2011
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