Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Target Sequencing Identifies a Novel Mutation of ZFPM2 in a Chinese Newborn with Tetralogy of Fallot.
Zhu L et al.
Annals of Clinical and Laboratory Science, 2019
Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.
Liu L et al.
Oncotarget, 2017
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
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