Associated Papers
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
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Beaumont M et al.
Human Genetics, 2019
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
De Marco P et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
Juriloff DM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.
Bartsch O et al.
Molecular Syndromology, 2012
Transmembrane topology of mammalian planar cell polarity protein Vangl1.
Iliescu A et al.
Biochemistry, 2011
Novel mutations in VANGL1 in neural tube defects.
Kibar Z et al.
Human Mutation, 2009
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