Associated Papers
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.
Zhang L et al.
Npj Genomic Medicine, 2021
34759310 (PubMed )
Supplement: 41525_2021_262_MOESM1_ESM.pdf
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
Patel R et al.
American Journal of Medical Genetics. Part A, 2021
Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3.
Yang Y et al.
Frontiers in Surgery, 2021
Mutational analysis of hedgehog signaling pathway genes in human malignant mesothelioma.
Lim CB et al.
Plos One, 2013
rs929387 of GLI3 is involved in tooth agenesis in Chinese Han population.
Liu H et al.
Plos One, 2013
A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population.
Liu H et al.
European Journal of Oral Sciences, 2012
Mutational analysis of SHH and GLI3 in anorectal malformations.
Garcia-Barceló MM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2008
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.
Fujioka H et al.
Clinical Genetics, 2005
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