Associated Papers
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis.
Alanzi T et al.
European Journal of Human Genetics : Ejhg, 2020
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
28274167 (PubMed )
Supplement: supplement_1.doc
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
LaHaye S et al.
Circulation. Cardiovascular Genetics, 2016
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