Carla Nishimura

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Christina Sloan-Heggen, Amanda O. Bierer, A. Eliot Shearer et al. · Human Genetics · 2016 · 588 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Héla Azaiez, Kevin T. Booth, Sean S. Ephraim et al. · The American Journal of Human Genetics · 2018 · 320 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Tara Maga, Carla Nishimura, Amy E. Weaver et al. · Human Mutation · 2010 · 309 citations · Full text

Life Sciences, Genetics, Hematology +16

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (<i>CFHR5</i>) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease)

Maria Asuncion Abrera-Abeleda, Carla Nishimura, Jenna L.H. Smith et al. · Journal of Medical Genetics · 2005 · 216 citations

Medicine, Genetics, Nephrology +17