Associated Papers
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.
Ganassi M et al.
Cell Death & Disease, 2026
41611663 (PubMed )
Supplement: 41419_2025_8358_MOESM7_ESM.xlsx › Sheet1
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f6.xlsx › Table_S6
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.
Gajera M et al.
Bmc Medical Genomics, 2019
31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 4_Human_Cleft_Lip__Table_S4__Significant_R2.xlsx › Multiple_Genes_Significant
New insights from GWAS for the cleft palate among han Chinese population.
Duan SJ et al.
Medicina Oral, Patologia Oral Y Cirugia Bucal, 2017
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
Leslie EJ et al.
American Journal of Human Genetics, 2015
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