Associated Papers
NUAK2 Pathogenic Variants Are Definitively Associated with Neural Tube Defects in Humans: New Genotype-Phenotype Correlation and Review of the Literature.
Mastromoro G et al.
Diagnostics (basel, Switzerland), 2025
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Derrick CJ et al.
Human Molecular Genetics, 2024
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 2021
34059789 (PubMed )
Supplement: 41423_2021_701_MOESM3_ESM.xlsx › 270
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095
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
Contribution of VANGL2 mutations to isolated neural tube defects.
Kibar Z et al.
Clinical Genetics, 2011
Transmembrane topology of mammalian planar cell polarity protein Vangl1.
Iliescu A et al.
Biochemistry, 2011
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