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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2016-08, Vol.135 (8), p.953-961
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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families
Author / Creator:Dueker, Nicole D ; Beecham, Ashley ; Wang, Liyong ; Dong, Chuanhui ; Sacco, Ralph L ; Blanton, Susan H ; Rundek, Tatjana
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-01, Vol.17 (1), p.e0250799-e0250799
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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-03, Vol.12 (3), p.e0169219-e0169219
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Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-11, Vol.6 (11), p.e27157-e27157
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Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families
Author / Creator:Dueker, Nicole D ; Beecham, Ashley ; Wang, Liyong ; Blanton, Susan H ; Guo, Shengru ; Rundek, Tatjana ; Sacco, Ralph L
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0167202-e0167202
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homozygous mutation in LTBP2 causes isolated microspherophakia
Author / Creator:Kumar, Arun ; Duvvari, Maheswara R ; Prabhakaran, Venkatesh C ; Shetty, Jyoti S ; Murthy, Gowri J ; Blanton, Susan H
Publisher:Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag
Journal title:Human genetics, 2010-10, Vol.128 (4), p.365-371
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Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families
Author / Creator:Dueker, Nicole D ; Guo, Shengru ; Beecham, Ashley ; Wang, Liyong ; Blanton, Susan H ; Di Tullio, Marco R ; Rundek, Tatjana ; Sacco, Ralph L
Publisher:England: Oxford University Press
Journal title:G3 : genes - genomes - genetics, 2018-02, Vol.8 (2), p.659-668
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A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes
Author / Creator:Della-Morte, David ; Beecham, Ashley ; Rundek, Tatjana ; Wang, Liyong ; McClendon, Mark S ; Slifer, Susan ; Blanton, Susan H ; Di Tullio, Marco R ; Sacco, Ralph L
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2011-07, Vol.12 (1), p.100-100, Article 100
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Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
Author / Creator:de Joya, Evan M ; Colbert, Brett M ; Tang, Pei-Ciao ; Lam, Byron L ; Yang, Jun ; Blanton, Susan H ; Dykxhoorn, Derek M ; Liu, Xuezhong
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-04, Vol.22 (8), p.3910
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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
Author / Creator: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
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-04, Vol.18 (4), p.364-371
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ArticlesPeer ReviewedFull Text
Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families
Author / Creator:Nicole D Dueker ; Ashley Beecham ; Liyong Wang ; Chuanhui Dong ; Ralph L Sacco ; Susan H Blanton ; Tatjana Rundek
Publisher:Public Library of Science (PLoS)
Journal title:PloS one, 2022-01, Vol.17 (1), p.e0250799
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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
Author / Creator:Wang, Liyong ; Dueker, Nicole ; Beecham, Ashley ; Blanton, Susan H. ; Sacco, Ralph L. ; Rundek, Tatjana
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-08, Vol.9 (1), p.11621-10, Article 11621
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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
Author / Creator:Jang, Minwoo Wendy ; Oh, Doo-Yi ; Yi, Eunyoung ; Liu, Xuezhong ; Ling, Jie ; Kim, Nayoung ; Sharma, Kushal ; Kim, Tai Young ; Lee, Seungmin ; Kim, Ah-Reum ; Kim, Min Young ; Kim, Min-A ; Lee, Mingyu ; Han, Jin-Hee ; Han, Jae Joon ; Park, Hye-Rim ; Kim, Bong Jik ; Lee, Sang-Yeon ; Woo, Dong Ho ; Oh, Jayoung ; Oh, Soo-Jin ; Du, Tingting ; Koo, Ja-Won ; Oh, Seung-Ha ; Shin, Hyun-Woo ; Seong, Moon-Woo ; Lee, Kyu-Yup ; Kim, Un-Kyung ; Shin, Jung Bum ; Sang, Shushan ; Cai, Xinzhang ; Mei, Lingyun ; He, Chufeng ; Blanton, Susan H. ; Chen, Zheng-Yi ; Chen, Hongsheng ; Liu, Xianlin ; Nourbakhsh, Aida ; Huang, Zaohua ; Kang, Kwon-Woo ; Park, Woong-Yang ; Feng, Yong ; Lee, C. Justin ; Choi, Byung Yoon
Publisher:Washington: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-06, Vol.118 (22), p.1-12
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Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis
Author / Creator:Li, Meng ; Mei, Lingyun ; He, Chufeng ; Chen, Hongsheng ; Cai, Xinzhang ; Liu, Yalan ; Tian, Runyi ; Tian, Qi ; Song, Jian ; Jiang, Lu ; Liu, Chang ; Wu, Hong ; Li, Taoxi ; Liu, Jing ; Li, Ximan ; Yi, Yifang ; Yan, Denise ; Blanton, Susan H. ; Hu, Zhengmao ; Liu, Xuezhong ; Li, Jiada ; Ling, Jie ; Feng, Yong
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-12, Vol.21 (12), p.2744-2754
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Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
Author / Creator:Li, Chong ; Bademci, Guney ; Subasioglu, Asli ; Diaz-Horta, Oscar ; Zhu, Yi ; Liu, Jiaqi ; Mitchell, Timothy Gavin ; Abad, Clemer ; Seyhan, Serhat ; Duman, Duygu ; Cengiz, Filiz Basak ; Tokgoz-Yilmaz, Suna ; Blanton, Susan H. ; Farooq, Amjad ; Walz, Katherina ; Zhai, R. Grace ; Tekin, Mustafa
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (4), p.1347-1352
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A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss
Author / Creator:Wang, Li ; Feng, Yong ; Yan, Denise ; Qin, Litao ; Grati, M’hamed ; Mittal, Rahul ; Li, Tao ; Sundhari, Abhiraami Kannan ; Liu, Yalan ; Chapagain, Prem ; Blanton, Susan H. ; Liao, Shixiu ; Liu, Xuezhong
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-07, Vol.137 (6-7), p.437-446
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Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism
Author / Creator:Weymouth, Katelyn S. ; Blanton, Susan H. ; Powell, Tamar ; Patel, Chandrashekhar V. ; Savill, Stuart A. ; Hecht, Jacqueline T.
Publisher:New York: Springer US
Journal title:Clinical orthopaedics and related research, 2016-07, Vol.474 (7), p.1726-1735
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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
Author / Creator:Bademci, Guney ; Abad, Clemer ; Incesulu, Armagan ; Rad, Abolfazl ; Alper, Ozgul ; Kolb, Susanne M. ; Cengiz, Filiz B. ; Diaz-Horta, Oscar ; Silan, Fatma ; Mihci, Ercan ; Ocak, Emre ; Najafi, Maryam ; Maroofian, Reza ; Yilmaz, Elanur ; Nur, Banu G. ; Duman, Duygu ; Guo, Shengru ; Sant, David W. ; Wang, Gaofeng ; Monje, Paula V. ; Haaf, Thomas ; Blanton, Susan H. ; Vona, Barbara ; Walz, Katherina ; Tekin, Mustafa
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-07, Vol.137 (6-7), p.479-486
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Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate
Author / Creator:Morris, Vershanna E. ; Hashmi, S. Shahrukh ; Zhu, Lisha ; Maili, Lorena ; Urbina, Christian ; Blackwell, Steven ; Greives, Matthew R. ; Buchanan, Edward P. ; Mulliken, John B. ; Blanton, Susan H. ; Zheng, W. Jim ; Hecht, Jacqueline T. ; Letra, Ariadne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-10, Vol.139 (10), p.1261-1272
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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
Author / Creator:Bowne, Sara J ; Humphries, Marian M ; Sullivan, Lori S ; Kenna, Paul F ; Tam, Lawrence C S ; Kiang, Anna S ; Campbell, Matthew ; Weinstock, George M ; Koboldt, Daniel C ; Ding, Li ; Fulton, Robert S ; Sodergren, Erica J ; Allman, Denis ; Millington-Ward, Sophia ; Palfi, Arpad ; McKee, Alex ; Blanton, Susan H ; Slifer, Susan ; Konidari, Ioanna ; Farrar, G Jane ; Daiger, Stephen P ; Humphries, Peter
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1074-1081
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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

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

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Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families

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homozygous mutation in LTBP2 causes isolated microspherophakia

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Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families

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

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Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy

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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

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Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families

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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

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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

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Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

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Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

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A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

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Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism

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MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

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Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate

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

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