Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM12_ESM.xlsx › Sheet3
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
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
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