R.J.C. Admiraal

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 · Full text

Chromatin, Genetic Disorder, Genetics +6

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 · 458 citations · Full text

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Ernie M.H.F. Bongers, F.T.M. Huysmans, Elena Levtchenko et al. · European Journal of Human Genetics · 2005 · 158 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +10

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 143 citations · Full text

Bioinformatics, Engineering, Gene Panel +13

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders et al. · Nature Communications · 2011 · 118 citations · Full text