Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
36117989 (PubMed )
Supplement: mmc5.xlsx › DBD_missense_mutations
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.
Xiong J et al.
Medicine, 2019
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD et al.
Journal of Medical Genetics, 2010
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Roessler E et al.
Human Mutation, 2009
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