Susan H. Blanton

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease

R.S. Kandt, Jonathan L. Haines, M. Smith et al. · Nature Genetics · 1992 · 340 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Prevalence of Disease-Causing Mutations in Families with Autosomal Dominant Retinitis Pigmentosa: A Screen of Known Genes in 200 Families

Lori S. Sullivan, Sara J. Bowne, David G. Birch et al. · Investigative Ophthalmology & Visual Science · 2006 · 287 citations · Full text

Life Sciences, Genetics, Ophthalmology +16

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Michail Spiliopoulos, Francesco Brancati, Eric Powell et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Hieab H.H. Adams, Derrek P. Hibar, Vincent Chouraki et al. · Nature Neuroscience · 2016 · 261 citations · Full text

Life Sciences, Genetics, Neuroscience +8

Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study

Sara L. Pulit, Patrick F. McArdle, Quenna Wong et al. · The Lancet Neurology · 2015 · 261 citations · Full text

Life Sciences, Genetics, Neurology +12