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1. A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

2. Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

13. Detection of Truncated Dystrophin in Fetal DMD Myotubes

17. Local dystrophin restoration with antisense oligonucleotide PRO051

20. Antisense-induced multiexon skipping for duchenne muscular dystrophy makes more sense

26. LPAR1 and ITGA4 regulate peripheral blood monocyte counts www.hgvs.org

27. Systemic Administration of PRO051 in Duchenneʼs Muscular Dystrophy

45. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

48. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

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