Cor W. R. J. Cremers

<i>SDH5</i> , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

Huai‐Xiang Hao, Oleh Khalimonchuk, Margit Schraders et al. · Science · 2009 · 703 citations

Life Sciences, Genetics, Molecular Biology +17

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Fiona E. Karet, Karin E. Finberg, Raoul D. Nelson et al. · Nature Genetics · 1999 · 694 citations

Medicine, Genetics, Molecular Genetics +13

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 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

James D. Eudy, Michael D. Weston, Su-Fang Yao et al. · Science · 1998 · 393 citations

Life Sciences, Genetics, Molecular Genetics +15

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Yaoqin Gong, Deborah Krakow, José Roberto Marcelino et al. · Nature Genetics · 1999 · 347 citations

Life Sciences, Genetics, Molecular Genetics +11