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Susan Blanton
Susan Blanton
Professor of Human Genetics, University of Miami
Verified email at miami.edu
Title
Cited by
Cited by
Year
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
RS Kandt, JL Haines, M Smith, H Northrup, RJM Gardner, MP Short, ...
Nature genetics 2 (1), 37-41, 1992
4331992
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
LS Sullivan, SJ Bowne, DG Birch, D Hughbanks-Wheaton, ...
Investigative ophthalmology & visual science 47 (7), 3052-3064, 2006
3262006
Novel genetic loci associated with hippocampal volume
DP Hibar, HHH Adams, N Jahanshad, G Chauhan, JL Stein, E Hofer, ...
Nature communications 8 (1), 13624, 2017
3002017
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly
A Kumar, SC Girimaji, MR Duvvari, SH Blanton
The American Journal of Human Genetics 84 (2), 286-290, 2009
3002009
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
SJ Bowne, LS Sullivan, SH Blanton, CL Cepko, S Blackshaw, DG Birch, ...
Human molecular genetics 11 (5), 559-568, 2002
2912002
Genetic heterogeneity in families with hereditary multiple exostoses
A Cook, W Raskind, SH Blanton, RM Pauli, RG Gregg, CA Francomano, ...
American journal of human genetics 53 (1), 71, 1993
2671993
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia
A Sirmaci, M Spiliopoulos, F Brancati, E Powell, D Duman, A Abrams, ...
The American Journal of Human Genetics 89 (2), 289-294, 2011
2582011
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
XZ Liu, XJ Xia, LR Xu, A Pandya, CY Liang, SH Blanton, SDM Brown, ...
Human molecular genetics 9 (1), 63-67, 2000
2562000
Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.
JT Hecht, D Hogue, LC Strong, MF Hansen, SH Blanton, M Wagner
American journal of human genetics 56 (5), 1125, 1995
2511995
Novel genetic loci underlying human intracranial volume identified through genome-wide association
HHH Adams, DP Hibar, V Chouraki, JL Stein, PA Nyquist, ME Renterķa, ...
Nature neuroscience 19 (12), 1569-1582, 2016
2462016
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome
AC Warren, A Chakravarti, C Wong, SA Slaugenhaupt, SL Halloran, ...
Science 237 (4815), 652-654, 1987
2391987
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
EJ Leslie, JC Carlson, JR Shaffer, E Feingold, G Wehby, CA Laurie, ...
Human molecular genetics 25 (13), 2862-2872, 2016
2072016
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
A Pandya, KS Arnos, XJ Xia, KO Welch, SH Blanton, TB Friedman, ...
Genetics in Medicine 5 (4), 295-303, 2003
2062003
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
LS Sullivan, JR Heckenlively, SJ Bowne, J Zuo, WA Hide, A Gal, ...
Nature genetics 22 (3), 255-259, 1999
1971999
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
BT Chiquet, SH Blanton, A Burt, D Ma, S Stal, JB Mulliken, JT Hecht
Human molecular genetics 17 (14), 2212-2218, 2008
1962008
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8
SH Blanton, JR Heckenlively, AW Cottingham, J Friedman, LA Sadler, ...
Genomics 11 (4), 857-869, 1991
1931991
Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI
BFJ Verhaaren, S Debette, JC Bis, JA Smith, MK Ikram, HH Adams, ...
Circulation: Cardiovascular Genetics 8 (2), 398-409, 2015
1912015
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa
S Züchner, J Dallman, R Wen, G Beecham, A Naj, A Farooq, MA Kohli, ...
The American Journal of Human Genetics 88 (2), 201-206, 2011
1892011
Variation in IRF6 contributes to nonsyndromic cleft lip and palate
SH Blanton, A Cortez, S Stal, JB Mulliken, RH Finnell, JT Hecht
American journal of medical genetics Part A 137 (3), 259-262, 2005
1822005
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.
J Stein, JB Mulliken, S Stal, DL Gasser, S Malcolm, R Winter, SH Blanton, ...
American journal of human genetics 57 (2), 257, 1995
1811995
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