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1. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans

2. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

10. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

11. Leucoencephalopathy with vanishing white matter as a cause of progressive myoclonus epilepsy

14. Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family

15. Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

20. Organization and Sequence of Human Cardiac Myosin Binding Protein C Gene (MYBPC3) and Identification of Mutations Predicted to Produce Truncated Proteins in Familial Hypertrophic Cardiomyopathy.

21. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

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