Conny M.A. van Ravenswaaij

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

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +4

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 461 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

David A. Koolen, Willy M. Nillesen, Martina H. A. Versteeg et al. · Journal of Medical Genetics · 2004 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

Ilse Feenstra, Jiayi Fang, David A. Koolen et al. · European Journal of Medical Genetics · 2005 · 125 citations

Life Sciences, Genetics, Molecular Genetics +17

Familial CHARGE syndrome and the <i>CHD7</i> gene: A recurrent missense mutation, intrafamilial recurrence and variability

Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk et al. · American Journal of Medical Genetics Part A · 2007 · 86 citations

Life Sciences, Genetics, Molecular Genetics +15