Susan Blanton

Susan Blanton

University of Miami - Coral Gables / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1294559
person_outline Susan Blanton's MOST POPULAR ARTICLES
1-) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney diseaseRS Kandt, JL Haines, M Smith, H Northrup, RJM Gardner, MP Short, ...Nature genetics 2 (1), 37-41, 19924241992
2-) Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, ...Investigative ophthalmology & visual science 47 (7), 3052-3064, 20063002006
3-) Novel genetic loci associated with hippocampal volumeDP Hibar, HHH Adams, N Jahanshad, G Chauhan, JL Stein, E Hofer, ...Nature communications 8 (1), 13624, 20172982017
4-) Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephalyA Kumar, SC Girimaji, MR Duvvari, SH BlantonThe American Journal of Human Genetics 84 (2), 286-290, 20093022009
5-) Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSJ Bowne, LS Sullivan, SH Blanton, CL Cepko, S Blackshaw, DG Birch, ...Human molecular genetics 11 (5), 559-568, 20022952002