Susan H. Blanton

Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics.

K. Volcik, H. Northrup, G. Tyerman, 2000, American journal of medical genetics.

Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

D. Grafham, C. Mellersh, S. Blanton, 2006, Genomics.

Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43

A. Bird, A. Webster, A. Moore, 2000, Journal of medical genetics.

A Mayan founder mutation is a common cause of deafness in Guatemala

M. Tekin, S. Blanton, Shengru Guo, 2016, Clinical genetics.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12

A. Pandya, S. Blanton, D. Yan, 2005, Journal of Medical Genetics.

Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels

W. Park, Eunyoung Yi, S. Blanton, 2020, bioRxiv.

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

A. Kumar, S. Girimaji, M. Babu, 2004, Clinical genetics.