Willy Lissens

Kathelijn Keymolen2
Linda De Meirleir2
Sara Seneca2
2Kathelijn Keymolen
2Linda De Meirleir
2Sara Seneca
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Campomelic dysplasia (CD) is a semilethal osteochondrodysplasia, characterized by skeletal anomalies that include bending of the long bones, and by XY sex reversal. CD results from haploinsufficiency for the transcription factor SOX9, a key regulator at various steps of cartilage differentiation and of early testis development. Two functional domains are so(More)
UNLABELLED Huntington disease (HD) is an autosomal dominant, lethal neurodegenerative disorder of the central nervous system, caused by an uncontrolled expansion of a CAG dynamic mutation in the coding region of the IT15gene. Although a majority of patients have a midlife onset of the disease, in a small number of patients the disease manifests before 20(More)
SUMMARY Today's genome browsers and protein databanks supply vast amounts of information about proteins. The challenge is to concisely bring together this information in an interactive and easy to generate format. AVAILABILITY AND IMPLEMENTATION We have developed an interactive CIRCOS module called i-PV to visualize user supplied protein sequence,(More)
  • Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir +6 others
  • 2014
The advent of massive parallel sequencing (MPS) has revolutionized the field of human molecular genetics, including the diagnostic study of mitochondrial (mt) DNA dysfunction. The analysis of the complete mitochondrial genome using MPS platforms is now common and will soon outrun conventional sequencing. However, the development of a robust and reliable(More)
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