Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS27_het
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Schnur RE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34040189 (PubMed )
Supplement: NIHMS1717832-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1396.504
Mutation analysis of WNT10B in obese children, adolescents and adults.
Van Camp JK et al.
Endocrine, 2013
A functional promoter polymorphism -607G>C of WNT10B is associated with abdominal fat in Korean female subjects.
Kim IC et al.
The Journal of Nutritional Biochemistry, 2011
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