Associated Papers
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Zhang X et al.
Prenatal Diagnosis, 2021
Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.
Okumura A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.
Daniel PB et al.
Human Mutation, 2012
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