Associated Papers
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
Bas H et al.
American Journal of Medical Genetics. Part A, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.
Tan L et al.
Bmc Medical Genetics, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
Guven A et al.
Neurogenetics, 2012
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
Alkuraya FS et al.
American Journal of Human Genetics, 2011
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
Bakircioglu M et al.
American Journal of Human Genetics, 2011
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