Conny M A van Ravenswaaij

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E L M Vissers, Conny M A van Ravenswaaij, +11 authors A. Geurts van Kessel
Nature Genetics
2004

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array… (More)

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Maria Clara Bonaglia, Roberto Ciccone, +11 authors Orsetta Zuffardi
European Journal of Human Genetics
2008

Most patients with an interstitial deletion of 6q16 have Prader–Willi-like phenotype, featuring obesity, hypotonia, short hands and feet, and developmental delay. In all reported studies, the… (More)

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Joris Robert Vermeesch, Heike Fiegler, +12 authors Orsetta Zuffardi
European Journal of Human Genetics
2007

Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular… (More)

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