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Susan Blanton
Susan Blanton
Professor of Human Genetics, University of Miami
Подтвержден адрес электронной почты в домене miami.edu
Название
Процитировано
Процитировано
Год
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
3272006
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
3032017
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
3012009
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 Rentería, ...
Nature neuroscience 19 (12), 1569-1582, 2016
2472016
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
2082016
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
1832005
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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