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Susan H. Blanton | doi.page

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Susan H. Blanton

University of Miami(US)Dr. John T. Macdonald Foundation(US)

Publications by Year

Research Areas

Hearing, Cochlea, Tinnitus, Genetics, Retinal Development and Disorders, Cleft Lip and Palate Research, Craniofacial Disorders and Treatments, Genetic Associations and Epidemiology

Most-Cited Works

→ Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease(1992)340 cited
→ Novel genetic loci associated with hippocampal volume(2017)334 cited
→ Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families(2006)286 cited
→ Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study(2015)260 cited
→ Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia(2011)258 cited
→ Novel genetic loci underlying human intracranial volume identified through genome-wide association(2016)258 cited

→ Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly(2009)

228 cited

→ A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13(2016)225 cited

Genetic heterogeneity in families with hereditary multiple exostoses.(1993)

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.(1995)