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
Genotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.
Yuan Y et al.
Frontiers in Genetics, 2025
40534843 (PubMed )
Supplement: Table2.xlsx › Sheet2
A Systematic Screening of ADHD-Susceptible Variants From 25 Chinese Parents-Offspring Trios.
Li Q et al.
Frontiers in Genetics, 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS3
Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis.
Chu KY et al.
Journal of Personalized Medicine, 2021
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1
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
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Functional analysis LRP6 novel mutations in patients with coronary artery disease.
Xu Y et al.
Plos One, 2014
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