Associated Papers
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
KCNMA1-linked channelopathy.
Bailey CS et al.
The Journal of General Physiology, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L et al.
Human Molecular Genetics, 2019
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li X et al.
European Journal of Human Genetics : Ejhg, 2018
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.
Arafat A et al.
Scientific Reports, 2017
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