Review of Genotype-Phenotype Correlations in Usher Syndrome
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
Published in Ear and hearing (01.01.2022)
Published in Ear and hearing (01.01.2022)
Get more information
Journal Article
The role of sirtuins and uncoupling proteins on vascular aging: The Northern Manhattan Study experience
Della-Morte, David, Pacifici, Francesca, Simonetto, Marialaura, Dong, Chuanhui, Dueker, Nicole, Blanton, Susan H., Wang, Liyong, Rundek, Tatjana
Published in Free radical biology & medicine (01.08.2024)
Published in Free radical biology & medicine (01.08.2024)
Get full text
Journal Article
A novel mutation in VCP causes Charcot―Marie―Tooth Type 2 disease
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
Published in Brain (London, England : 1878) (01.11.2014)
Published in Brain (London, England : 1878) (01.11.2014)
Get full text
Journal Article
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
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
Published in Human genetics (01.08.2016)
Published in Human genetics (01.08.2016)
Get full text
Journal Article
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
de Joya, Evan M, Colbert, Brett M, Tang, Pei-Ciao, Lam, Byron L, Yang, Jun, Blanton, Susan H, Dykxhoorn, Derek M, Liu, Xuezhong
Published in International journal of molecular sciences (10.04.2021)
Published in International journal of molecular sciences (10.04.2021)
Get full text
Journal Article
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
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
Published in PloS one (08.03.2017)
Published in PloS one (08.03.2017)
Get full text
Journal Article
Recent advancements in understanding the role of epigenetics in the auditory system
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
Published in Gene (30.11.2020)
Published in Gene (30.11.2020)
Get full text
Journal Article
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
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
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
Get full text
Journal Article
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
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
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
Get full text
Journal Article
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque
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
Published in PloS one (07.11.2011)
Published in PloS one (07.11.2011)
Get full text
Journal Article
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss
D'Aguillo, Christine, Bressler, Sara, Yan, Denise, Mittal, Rahul, Fifer, Robert, Blanton, Susan H, Liu, Xuezhong
Published in International journal of audiology (02.12.2019)
Published in International journal of audiology (02.12.2019)
Get more information
Journal Article
Extreme Phenotype Approach Suggests Taste Transduction Pathway for Carotid Plaque in a Multi-Ethnic Cohort
Dueker, Nicole D, Doliner, Brett, Gardener, Hannah, Dong, Chuanhui, Beecham, Ashley, Della-Morte, David, Sacco, Ralph L, Blanton, Susan H, Wang, Liyong, Rundek, Tatjana
Published in Stroke (1970) (01.09.2020)
Published in Stroke (1970) (01.09.2020)
Get full text
Journal Article
Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study
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
Published in Neurobiology of aging (01.03.2023)
Published in Neurobiology of aging (01.03.2023)
Get full text
Journal Article
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
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
Published in PloS one (30.11.2012)
Published in PloS one (30.11.2012)
Get full text
Journal Article
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
Wang, Liyong, Dueker, Nicole, Beecham, Ashley, Blanton, Susan H., Sacco, Ralph L., Rundek, Tatjana
Published in Scientific reports (12.08.2019)
Published in Scientific reports (12.08.2019)
Get full text
Journal Article
The genetic basis of deafness in populations of African descent
Rudman, Jason R., Kabahuma, Rosemary I., Bressler, Sara E., Feng, Yong, Blanton, Susan H., Yan, Denise, Liu, Xue-Zhong
Published in Journal of genetics and genomics (20.06.2017)
Published in Journal of genetics and genomics (20.06.2017)
Get full text
Journal Article