Associated Papers
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
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.
Zhang H et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
Li JD et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.
Zhao Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
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