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  • Susan H Blanton
2015
7 Scopus citations

Whole-exome sequencing and its impact in hereditary hearing loss

Atik, T., Bademci, G., Diaz-Horta, O., Blanton, S. H. & Tekin, M., Mar 31 2015, In : Genetics research. 97, p. e4

Research output: Contribution to journalReview article

26 Scopus citations
2014

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa

Sullivan, L. S., Koboldt, D. C., Bowne, S. J., Lang, S., Blanton, S. H., Cadena, E., Avery, C. E., Lewis, R. A., Webb-Jones, K., Wheaton, D. H., Birch, D. G., Coussa, R., Ren, H., Lopez, I., Chakarova, C., Koenekoop, R. K., Garcia, C. A., Fulton, R. S., Wilson, R. K., Weinstock, G. M. & 1 others, Daiger, S. P., Sep 4 2014, In : Investigative Ophthalmology and Visual Science. 55, 11, p. 7147-7158 12 p.

Research output: Contribution to journalArticle

26 Scopus citations

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease

Gonzalez, M. A., Feely, S. M., Speziani, F., Strickland, A. V., Danzi, M., Bacon, C., Lee, Y., Chou, T. F., Blanton, S. H., Weihl, C. C., Zuchner, S. L. & Shy, M. E., 2014, In : Brain. 137, 11, p. 2897-2902 6 p.

Research output: Contribution to journalArticle

47 Scopus citations

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)

Daiger, S. P., Bowne, S. J., Sullivan, L. S., Blanton, S. H., Weinstock, G. M., Koboldt, D. C., Fulton, R. S., Larsen, D., Humphries, P., Humphries, M. M., Pierce, E. A., Chen, R. & Li, Y., Jan 1 2014, In : Advances in experimental medicine and biology. 801, p. 123-129 7 p.

Research output: Contribution to journalArticle

21 Scopus citations

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria

Lasisi, A. O., Bademci, G., Foster, J., Blanton, S. & Tekin, M., Nov 1 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 11, p. 1870-1873 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Thorson, W., Diaz-Horta, O., Foster, J., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S. & Tekin, M., Jun 2014, In : Human Genetics. 133, 6, p. 737-742 6 p.

Research output: Contribution to journalArticle

46 Scopus citations

Exome-based mapping and variant prioritization for inherited mendelian disorders

Koboldt, D. C., Larson, D. E., Sullivan, L. S., Bowne, S. J., Steinberg, K. M., Churchill, J. D., Buhr, A. C., Nutter, N., Pierce, E. A., Blanton, S. H., Weinstock, G. M., Wilson, R. K. & Daiger, S. P., Mar 6 2014, In : American journal of human genetics. 94, 3, p. 373-384 12 p.

Research output: Contribution to journalArticle

31 Scopus citations

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Diaz-Horta, O., Subasioglu-Uzak, A., Grati, M., DeSmidt, A., Foster, J., Cao, L., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Abad, C., Mittal, R., Blanton, S., Liu, X. Z., Farooq, A., Walz, K., Lu, Z. & Tekin, M., Jul 8 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 27, p. 9864-9868 5 p.

Research output: Contribution to journalArticle

40 Scopus citations

Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate

Letra, A., Maili, L., Mulliken, J. B., Buchanan, E., Blanton, S. H. & Hecht, J. T., 2014, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 100, 9, p. 679-685 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Genome-wide association study identifies new disease loci for isolated clubfoot

Zhang, T. X., Haller, G., Lin, P., Alvarado, D. M., Hecht, J. T., Blanton, S. H., Richards, B. S., Rice, J. P., Dobbs, M. B. & Gurnett, C. A., Jan 1 2014, In : Journal of medical genetics. 51, 5, p. 334-339 6 p.

Research output: Contribution to journalArticle

10 Scopus citations
8 Scopus citations

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss

Bademci, G., Diaz-Horta, O., Guo, S., Duman, D., Van Booven, D., Foster, J., Cengiz, F. B., Blanton, S. & Tekin, M., Sep 1 2014, In : Genetic Testing and Molecular Biomarkers. 18, 9, p. 658-661 4 p.

Research output: Contribution to journalArticle

19 Scopus citations

Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics

Della-Morte, D., Wang, L., Beecham, A., Blanton, S. H., Zhao, H., Sacco, R. L., Rundek, T. & Dong, C., Sep 15 2014, In : Journal of the Neurological Sciences. 344, 1-2, p. 27-31 5 p.

Research output: Contribution to journalArticle

8 Scopus citations
2013

Collection of family health history for assessment of chronic disease risk in primary care.

Powell, K. P., Christianson, C. A., Hahn, S. E., Dave, G., Evans, L. R., Blanton, S. H., Hauser, E., Agbaje, A., Orlando, L. A., Ginsburg, G. S. & Henrich, V. C., Jan 1 2013, In : Unknown Journal. 74, 4, p. 279-286 8 p.

Research output: Contribution to journalArticle

20 Scopus citations

Correction: Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. (PLoS ONE)

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Zuc̈hner, S., Blanton, S. & Tekin, M., May 17 2013, In : PloS one. 8, 5

Research output: Contribution to journalComment/debate

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise

Yan, D., Zhu, Y., Walsh, T., Xie, D., Yuan, H., Sirmaci, A., Fujikawa, T., Wong, A. C. Y., Loh, T. L., Du, L., Grati, M., Vlajkovic, S. M., Blanton, S., Ryan, A. F., Chen, Z. Y., Thorne, P. R., Kachar, B., Tekin, M., Zhao, H. B., Housley, G. D. & 2 others, King, M. C. & Liu, X. Z., Feb 5 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 6, p. 2228-2233 6 p.

Research output: Contribution to journalArticle

68 Scopus citations

Next-generation sequencing in genetic hearing loss

Yan, D., Tekin, M., Blanton, S. H. & Liu, X. Z., Aug 1 2013, In : Genetic Testing and Molecular Biomarkers. 17, 8, p. 581-587 7 p.

Research output: Contribution to journalReview article

23 Scopus citations

Traditional risk factors are not major contributors to the variance in carotid intima-media thickness

Rundek, T., Blanton, S. H., Bartels, S., Dong, C., Raval, A., Demmer, R. T., Cabral, D., Elkind, M. S. V., Sacco, R. L. & Desvarieux, M., Aug 1 2013, In : Stroke. 44, 8, p. 2101-2108 8 p.

Research output: Contribution to journalArticle

55 Scopus citations
2012

Association between variations in coagulation system genes and carotid plaque

Della-Morte, D., Beecham, A., Dong, C., Wang, L., McClendon, M. S., Gardener, H., Blanton, S. H., Sacco, R. L. & Rundek, T., Dec 15 2012, In : Journal of the Neurological Sciences. 323, 1-2, p. 93-98 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

Association of AXIN2 with non-syndromic oral clefts in multiple populations

Letra, A., Bjork, B., Cooper, M. E., Szabo-Rogers, H., Deleyiannis, F. W. B., Field, L. L., Czeizel, A. E., Ma, L., Garlet, G. P., Poletta, F. A., Mereb, J. C., Lopez-Camelo, J. S., Castilla, E. E., Orioli, I. M., Wendell, S., Blanton, S. H., Liu, K., Hecht, J. T., Marazita, M. L., Vieira, A. R. & 1 others, Silva, R. M., May 1 2012, In : Journal of Dental Research. 91, 5, p. 473-478 6 p.

Research output: Contribution to journalArticle

25 Scopus citations

Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts

Letra, A., Silva, R. M., Motta, L. G., Blanton, S. H., Hecht, J. T., Granjeirol, J. M. & Vieira, A. R., Jul 1 2012, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 94, 7, p. 540-548 9 p.

Research output: Contribution to journalArticle

16 Scopus citations

Association of the sirtuin and mitochondrial uncoupling protein genes with carotid intima-media thickness

Della-Morte, D., Dong, C., Bartels, S., Cabral, D., Blanton, S. H., Sacco, R. L. & Rundek, T., Nov 2012, In : Translational Research. 160, 5, p. 389-390 2 p.

Research output: Contribution to journalComment/debate

8 Scopus citations
17 Scopus citations
7 Scopus citations

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

Yariz, K. O., Duman, D., Seco, C. Z., Dallman, J., Huang, M., Peters, T. A., Sirmaci, A., Lu, N., Schraders, M., Skromne, I., Oostrik, J., Diaz-Horta, O., Young, J. I., Tokgoz-Yilmaz, S., Konukseven, O., Shahin, H., Hetterschijt, L., Kanaan, M., Oonk, A. M. M., Edwards, Y. J. K. & 10 others, Li, H., Atalay, S., Blanton, S., Desmidt, A. A., Liu, X. Z., Pennings, R. J. E., Lu, Z., Chen, Z. Y., Kremer, H. & Tekin, M., Nov 2 2012, In : American journal of human genetics. 91, 5, p. 872-882 11 p.

Research output: Contribution to journalArticle

63 Scopus citations

Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot

Lu, W., Bacino, C. A., Richards, B. S., Alvarez, C., Vandermeer, J. E., Vella, M., Ahituv, N., Sikka, N., Dietz, F. R., Blanton, S. H. & Hecht, J. T., Jul 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 7, p. 1620-1627 8 p.

Research output: Contribution to journalArticle

20 Scopus citations

The use of a family history risk assessment tool within a community health care system: Views of primary care providers

Christianson, C. A., Powell, K. P., Hahn, S. E., Blanton, S. H., Bogacik, J. & Henrich, V. C., Oct 1 2012, In : Journal of Genetic Counseling. 21, 5, p. 652-661 10 p.

Research output: Contribution to journalArticle

15 Scopus citations

Traditional cardiovascular risk factors explain the minority of the variability in carotid plaque

Kuo, F., Gardener, H., Dong, C., Cabral, D., Della-Morte, D., Blanton, S. H., Elkind, M. S. V., Sacco, R. L. & Rundek, T., Jul 1 2012, In : Stroke. 43, 7, p. 1755-1760 6 p.

Research output: Contribution to journalArticle

47 Scopus citations

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Züchner, S., Blanton, S. & Tekin, M., Nov 30 2012, In : PloS one. 7, 11, e50628.

Research output: Contribution to journalArticle

98 Scopus citations
2011

A candidate gene study revealed sex-specific association between the OLR1 gene and carotid plaque

Wang, L., Yanuck, D., Beecham, A., Gardener, H., Slifer, S., Blanton, S. H., Sacco, R. L. & Rundek, T., Mar 1 2011, In : Stroke. 42, 3, p. 588-592 5 p.

Research output: Contribution to journalArticle

25 Scopus citations

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Bowne, S. J., Humphries, M. M., Sullivan, L. S., Kenna, P. F., Tam, L. C. S., Kiang, A. S., Campbell, M., Weinstock, G. M., Koboldt, D. C., Ding, L., Fulton, R. S., Sodergren, E. J., Allman, D., Millington-Ward, S., Palfi, A., McKee, A., Blanton, S. H., Slifer, S., Konidari, I., Farrar, G. J. & 2 others, Daiger, S. P. & Humphries, P., Oct 2011, In : European Journal of Human Genetics. 19, 10, p. 1074-1081 8 p.

Research output: Contribution to journalArticle

82 Scopus citations

A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes

Della-Morte, D., Beecham, A., Rundek, T., Wang, L., McClendon, M. S., Slifer, S., Blanton, S. H., Di Tullio, M. R. & Sacco, R. L., Jul 26 2011, In : BMC medical genetics. 12, 100.

Research output: Contribution to journalArticle

10 Scopus citations

Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate

Yuan, Q., Blanton, S. H. & Hecht, J. T., Jun 1 2011, In : American Journal of Medical Genetics, Part A. 155, 6, p. 1469-1471 3 p.

Research output: Contribution to journalLetter

18 Scopus citations

Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque

Dong, C., Della-Morte, D., Wang, L., Cabral, D., Beecham, A., McClendon, M. S., Luca, C. C., Blanton, S. H., Sacco, R. L. & Rundek, T., Nov 7 2011, In : PloS one. 6, 11, e27157.

Research output: Contribution to journalArticle

36 Scopus citations

Carotid plaque and candidate genes related to inflammation and endothelial function in hispanics from Northern Manhattan

Gardener, H., Beecham, A., Cabral, D., Yanuck, D., Slifer, S., Wang, L., Blanton, S. H., Sacco, R. L., Juo, S. H. H. & Rundek, T., Apr 1 2011, In : Stroke. 42, 4, p. 889-896 8 p.

Research output: Contribution to journalArticle

30 Scopus citations

Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement (European Journal of Human Genetics (2011) 19 (1074-1081) DOI: 10.1038/ejhg.2011.86)

Bowne, S. J., Humphries, M. M., Sullivan, L. S., Kenna, P. F., Tam, L. C. S., Kiang, A. S., Campbell, M., Weinstock, G. M., Koboldt, D. C., Ding, L., Fulton, R. S., Sodergren, E. J., Allman, D., Millington-Ward, S., Palfi, A., McKee, A., Blanton, S. H., Slifer, S., Konidari, I., Farrar, G. J. & 2 others, Daiger, S. P. & Humphries, P., Oct 1 2011, In : European Journal of Human Genetics. 19, 10, 1 p.

Research output: Contribution to journalComment/debate

Folate pathway and nonsyndromic cleft lip and palate

Blanton, S. H., Henry, R. R., Yuan, Q., Mulliken, J. B., Stal, S., Finnell, R. H. & Hecht, J. T., Jan 1 2011, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 91, 1, p. 50-60 11 p.

Research output: Contribution to journalArticle

51 Scopus citations

Genetic causes of nonsyndromic cleft lip with or without cleft palate

Yuan, Q., Blanton, S. H. & Hecht, J. T., Mar 14 2011, Medical Genetics in the Clinical Practice of ORL. Alford, R. & Sutton, R. (eds.). p. 107-113 7 p. (Advances in Oto-Rhino-Laryngology; vol. 70).

Research output: Chapter in Book/Report/Conference proceedingChapter

19 Scopus citations

Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics

Dong, C., Beecham, A., Wang, L., Slifer, S., Wright, C. B., Blanton, S. H., Rundek, T. & Sacco, R. L., Jul 1 2011, In : Journal of Lipid Research. 52, 7, p. 1411-1419 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

Genome-wide linkage and peak-wide association study of obesity-related quantitative traits in Caribbean Hispanics

Dong, C., Beecham, A., Slifer, S., Wang, L., McClendon, M. S., Blanton, S. H., Rundek, T. & Sacco, R. L., Feb 1 2011, In : Human Genetics. 129, 2, p. 209-219 11 p.

Research output: Contribution to journalArticle

17 Scopus citations

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S. & Tekin, M., Aug 12 2011, In : American journal of human genetics. 89, 2, p. 289-294 6 p.

Research output: Contribution to journalArticle

109 Scopus citations

Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection

Chiquet, B. T., Henry, R., Burt, A., Mulliken, J. B., Stal, S., Blanton, S. H. & Hecht, J. T., Jan 1 2011, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 91, 1, p. 44-49 6 p.

Research output: Contribution to journalArticle

21 Scopus citations

Smoking, the xenobiotic pathway, and clubfoot

Sommer, A., Blanton, S. H., Weymouth, K., Alvarez, C., Richards, B. S., Barnes, D. & Hecht, J. T., Jan 1 2011, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 91, 1, p. 20-28 9 p.

Research output: Contribution to journalArticle

13 Scopus citations

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot

Weymouth, K. S., Blanton, S. H., Bamshad, M. J., Beck, A. E., Alvarez, C., Richards, S., Gurnett, C. A., Dobbs, M. B., Barnes, D., Mitchell, L. E. & Hecht, J. T., Sep 2011, In : American Journal of Medical Genetics, Part A. 155, 9, p. 2170-2179 10 p.

Research output: Contribution to journalArticle

20 Scopus citations

Vestibular dysfunction in DFNB1 deafness

Dodson, K. M., Blanton, S. H., Welch, K. O., Norris, V. W., Nuzzo, R. L., Wegelin, J. A., Marin, R. S., Nance, W. E., Pandya, A. & Arnos, K. S., May 1 2011, In : American Journal of Medical Genetics, Part A. 155, 5, p. 993-1000 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

Züchner, S., Dallman, J., Wen, R., Beecham, G., Naj, A., Farooq, A., Kohli, M. A., Whitehead, P. L., Hulme, W., Konidari, I., Edwards, Y. J. K., Cai, G., Peter, I., Seo, D., Buxbaum, J. D., Haines, J. L., Blanton, S., Young, J., Alfonso, E., Vance, J. M. & 2 others, Lam, B. L. & Peričak-Vance, M. A., Feb 11 2011, In : American journal of human genetics. 88, 2, p. 201-206 6 p.

Research output: Contribution to journalArticle

107 Scopus citations