Search Results - "Blanton, Susan"

Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families by Dueker, Nicole D, Beecham, Ashley, Wang, Liyong, Dong, Chuanhui, Sacco, Ralph L, Blanton, Susan H, Rundek, Tatjana

“…Carotid plaque is a subclinical measure of atherosclerosis. We have previously shown measures of carotid plaque to be heritable in a sample of 100 Dominican…”
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Review of Genotype-Phenotype Correlations in Usher Syndrome by Nisenbaum, Eric, Thielhelm, Torin P., Nourbakhsh, Aida, Yan, Denise, Blanton, Susan H., Shu, Yilai, Koehler, Karl R., El-Amraoui, Aziz, Chen, Zhengyi, Lam, Byron L., Liu, Xuezhong

“…Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous disorders defined by the triad of sensorineural hearing loss (SNHL),…”
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The role of sirtuins and uncoupling proteins on vascular aging: The Northern Manhattan Study experience by Della-Morte, David, Pacifici, Francesca, Simonetto, Marialaura, Dong, Chuanhui, Dueker, Nicole, Blanton, Susan H., Wang, Liyong, Rundek, Tatjana

“…Aging affects all organs. Arteries, in particular, are among the most affected. Vascular aging (VA) is defined as age-associated changes in function and…”
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A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease by GONZALEZ, Michael A, FEELY, Shawna M, ZUCHNER, Stephan, SHY, Michael E, SPEZIANI, Fiorella, STRICKLAND, Alleene V, DANZI, Matt, BACON, Chelsea, YOUJIN LEE, CHOU, Tsui-Fen, BLANTON, Susan H, WEIHL, Conrad C

“…Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget's disease of the bone and…”
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Mutations in STIL, Encoding a Pericentriolar and Centrosomal Protein, Cause Primary Microcephaly by Kumar, Arun, Girimaji, Satish C., Duvvari, Mahesh R., Blanton, Susan H.

“…Primary microcephaly (MCPH) is an autosomal-recessive congenital disorder characterized by smaller-than-normal brain size and mental retardation. MCPH is…”
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Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care by Colbert, Brett M., Smeal, Molly, Cromar, Zachary J., Rosa, Potyra, Blanton, Susan H., Lam, Byron L., Liu, Xue Z.

“…Introduction Usher syndrome (USH) is a rare, autosomal‐recessive genetic disorder and a leading cause of early onset deaf‐blindness. A clinical diagnosis is…”
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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents by Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F. Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I., Kameswaran, Mohan, Lasisi, Taye J., Adedeji, Waheed A., Lasisi, Akeem O., Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H., Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M., Nord, Alex S., Blanton, Susan H., Liu, Xue Z., Tekin, Mustafa

“…Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific…”
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Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy by de Joya, Evan M, Colbert, Brett M, Tang, Pei-Ciao, Lam, Byron L, Yang, Jun, Blanton, Susan H, Dykxhoorn, Derek M, Liu, Xuezhong

“…Hearing loss is the most common sensory disorder with ~466 million people worldwide affected, representing about 5% of the population. A substantial portion of…”
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Identifying X-chromosome variants associated with age-related macular degeneration by Grunin, Michelle, Igo, Jr, Robert P, Song, Yeunjoo E, Blanton, Susan H, Pericak-Vance, Margaret A, Haines, Jonathan L

“…In genome-wide association studies (GWAS), X chromosome (ChrX) variants are often not investigated. Sex-specific effects and ChrX-specific quality control (QC)…”
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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach by Yan, Denise, Xiang, Guangxin, Chai, Xingping, Qing, Jie, Shang, Haiqiong, Zou, Bing, Mittal, Rahul, Shen, Jun, Smith, Richard J H, Fan, Yao-Shan, Blanton, Susan H, Tekin, Mustafa, Morton, Cynthia, Xing, Wanli, Cheng, Jing, Liu, Xue Zhong

“…The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups…”
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Recent advancements in understanding the role of epigenetics in the auditory system by Mittal, Rahul, Bencie, Nicole, Liu, George, Eshraghi, Nicolas, Nisenbaum, Eric, Blanton, Susan H., Yan, Denise, Mittal, Jeenu, Dinh, Christine T., Young, Juan I., Gong, Feng, Liu, Xue Zhong

“…Sensorineural deafness in mammals is most commonly caused by damage to inner ear sensory epithelia, or hair cells, and can be attributed to genetic and…”
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort by Bademci, Guney, Foster, Joseph, Mahdieh, Nejat, Bonyadi, Mortaza, Duman, Duygu, Cengiz, F.Basak, Menendez, Ibis, Diaz-Horta, Oscar, Shirkavand, Atefeh, Zeinali, Sirous, Subasioglu, Asli, Tokgoz-Yilmaz, Suna, Huesca-Hernandez, Fabiola, de la Luz Arenas-Sordo, Maria, Dominguez-Aburto, Juan, Hernandez-Zamora, Edgar, Montenegro, Paola, Paredes, Rosario, Moreta, Germania, Vinueza, Rodrigo, Villegas, Franklin, Mendoza-Benitez, Santiago, Guo, Shengru, Bozan, Nazim, Tos, Tulay, Incesulu, Armagan, Sennaroglu, Gonca, Blanton, Susan H., Ozturkmen-Akay, Hatice, Yildirim-Baylan, Muzeyyen, Tekin, Mustafa

“…Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes…”
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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia by Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa

“…KBG syndrome is characterized by intellectual disability associated with macrodontia of the upper central incisors as well as distinct craniofacial findings,…”
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Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque by Dong, Chuanhui, Della-Morte, David, Wang, Liyong, Cabral, Digna, Beecham, Ashley, McClendon, Mark S, Luca, Corneliu C, Blanton, Susan H, Sacco, Ralph L, Rundek, Tatjana

“…Sirtuins (SIRTs) and mitochondrial uncoupling proteins (UCPs) have been implicated in cardiovascular diseases through the control of reactive oxygen species…”
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Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss by D'Aguillo, Christine, Bressler, Sara, Yan, Denise, Mittal, Rahul, Fifer, Robert, Blanton, Susan H., Liu, Xuezhong

“…Objective: Universal newborn hearing screening (UNHS) uses otoacoustic emissions testing (OAE) and auditory brainstem response testing (ABR) to screen all…”
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Extreme Phenotype Approach Suggests Taste Transduction Pathway for Carotid Plaque in a Multi-Ethnic Cohort by Dueker, Nicole D., Doliner, Brett, Gardener, Hannah, Dong, Chuanhui, Beecham, Ashley, Della-Morte, David, Sacco, Ralph L., Blanton, Susan H., Wang, Liyong, Rundek, Tatjana

“…BACKGROUND AND PURPOSE:Carotid plaque is a heritable trait and a strong predictor of vascular events. Several loci have been identified for carotid plaque,…”
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Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study by Dueker, Nicole, Wang, Liyong, Gardener, Hannah, Gomez, Lissette, Kaur, Sonya, Beecham, Ashley, Blanton, Susan H., Dong, Chuanhui, Gutierrez, Jose, Cheung, Ying Kuen, Moon, Yeseon P., Levin, Bonnie, Wright, Clinton B., Elkind, Mitchell S.V., Sacco, Ralph L., Rundek, Tatjana

“…•Four SNPs in LINC01362 are associated with executive function in a diverse cohort.•The SNPs are associated with color trails test form 2, odd-man-out subtests…”
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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss by Diaz-Horta, Oscar, Duman, Duygu, Foster, 2nd, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H, Edwards, Yvonne J K, Züchner, Stephan, Blanton, Susan, Tekin, Mustafa

“…Identification of the pathogenic mutations underlying autosomal recessive nonsyndromic hearing loss (ARNSHL) is difficult, since causative mutations in 39…”
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Targeted sequencing of linkage region in Dominican families implicates PRIMA1 and the SPATA7-PTPN21-ZC3H14-EML5-TTC8 locus in carotid-intima media thickness and atherosclerotic events by Wang, Liyong, Dueker, Nicole, Beecham, Ashley, Blanton, Susan H., Sacco, Ralph L., Rundek, Tatjana

“…Carotid intima-media thickness (cIMT) is a subclinical marker for atherosclerosis. Previously, we reported a quantitative trait locus (QTL) for total cIMT on…”
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The genetic basis of deafness in populations of African descent by Rudman, Jason R., Kabahuma, Rosemary I., Bressler, Sara E., Feng, Yong, Blanton, Susan H., Yan, Denise, Liu, Xue-Zhong

“…Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes…”
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