Lies H. Hoefsloot

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

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

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 364 citations

Mendelian Disorder, Treacher Collins, Rna Polymerases +9

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

Marcel Nelen, Hannie Kremer, Irene B. M. Konings et al. · European Journal of Human Genetics · 1999 · 342 citations · Full text

Cowden Disease, Genetics, Pathogenesis +5

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 336 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +23