Associated Papers
Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.
Guan L et al.
European Journal of Medical Research, 2026
41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.
Gariballa N et al.
Frontiers in Molecular Biosciences, 2020
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-s006.xlsx › Table_S3
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
Leslie EJ et al.
Clinical Genetics, 2013
Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction.
He JL et al.
European Journal of Pediatrics, 2012
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
Suzuki S et al.
American Journal of Human Genetics, 2009
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