Associated Papers
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
Jakubek YA et al.
American Journal of Human Genetics, 2025
39809269 (PubMed )
Supplement: mmc2.xlsx › S17
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects.
Shi Z et al.
Birth Defects Research, 2018
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
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.
Allache R et al.
Human Molecular Genetics, 2014
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
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