Associated Papers
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Au KS et al.
Scientific Reports, 2021
33574475 (PubMed )
Supplement: 41598_2021_83058_MOESM1_ESM.xlsx › Supplementary_Table_3
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.
Tian T et al.
Human Genetics, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.
Merello E et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2015
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.
Bartsch O et al.
Molecular Syndromology, 2012
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