Smith, Richard J. H.

A common haplotype in the complement regulatory gene factor H ( HF1/CFH ) predisposes individuals to age-related macular degeneration

Hageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M., et al. (2005) · Proceedings of the National Academy of Sciences

Retinal Diseases and TreatmentsComplement system in diseases

Cited by 1,961

Impact of tympanostomy tubes on child quality of life

Rosenfeld, R. M., Bhaya, M. H., Bower, C. M., Brookhouser, P. E., Casselbrant, M. L., Chan, K. H., Cunningham, M. J., Derkay, C. S., Gray, S. D., Manning, S. C., et al. (2000) · Archives of Otolaryngology–Head & Neck Surgery

Ear Surgery and Otitis MediaHearing Loss and Rehabilitation

Cited by 206

Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration

Skerka, C., Lauer, N., Weinberger, A. A. W. A., Keilhauer, C. N., Sühnel, J., Smith, R., Schlötzer–Schrehardt, U., Fritsche, L., Heinen, S., & Hartmann, A. (2007) · Molecular Immunology

Complement system in diseasesRetinal Diseases and Treatments

Cited by 197

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care

Shearer, A. E., & Smith, R. J. H. (2015) · Otolaryngology–Head and Neck Surgery

Hearing, Cochlea, Tinnitus, GeneticsGenomics and Rare Diseases

Cited by 144

Genomic structures of SCN2A and SCN3A – candidate genes for deafness at the DFNA16 locus

Kasai, N., Fukushima, K., Ueki, Y., Prasad, S., Nosakowski, J., Sugata, K.-I., Sugata, A., Nishizaki, K., Meyer, N. C., & Smith, R. J. H. (2001) · Gene

Hearing, Cochlea, Tinnitus, GeneticsIon channel regulation and function

Cited by 43

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome

Tollefson, M. R., Gogal, R. A., Weaver, A. M., Schaefer, A. M., Marini, R. J., Azaiez, H., Kolbe, D. L., Wang, D., Weaver, A. E., Casavant, T. L., et al. (2023) · Human Genetics

Genomics and Rare DiseasesHearing, Cochlea, Tinnitus, Genetics

Cited by 20

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A

dental development and anomaliesHearing, Cochlea, Tinnitus, Genetics

Cited by 20

Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome

Tollefson, M. R., Gogal, R. A., Weaver, A. M., Schaefer, A. M., Marini, R. J., Azaiez, H., Kolbe, D. L., Wang, D., Weaver, A. E., Casavant, T. L., et al. (2023) · Human Genetics

Genomics and Rare DiseasesHearing, Cochlea, Tinnitus, Genetics

Cited by 20

miRNA mutations are not a common cause of deafness

Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D., & Smith, R. J. H. (2010) · American Journal of Medical Genetics Part A

Hearing, Cochlea, Tinnitus, GeneticsMicroRNA in disease regulation

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