Chorea-acanthocytosis: 3 new families with novel genetic and metabolic findings

by Mirza Masoom Abbas, S G Thenral, Vedam L Ramprasad, Ruth H Walker, Prashanth Lingappa Kukkle
Published 2021-01-01

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

by Arun Shastry, Sankaramoorthy Aravind, Meeta Sunil, Keerthi Ramesh, Berty Ashley, Nithyanandan T., Vedam L. Ramprasad, Ravi Gupta, Somasekar Seshagiri, Upendra Nongthomba, Sameer Phalke
Published 2021-05-01

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

by Rajani Battu, Anshuman Verma, Ramesh Hariharan, Shuba Krishna, Ravi Kiran, Jemima Jacob, Aparna Ganapathy, Vedam L. Ramprasad, Govindasamy Kumaramanickavel, Nallathambi Jeyabalan, Arkasubhra Ghosh
Published 2015-01-01

Retinoblastoma genetics screening and clinical management

by Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad, Govindasamy Kumaramanickavel
Published 2021-07-01

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate

by Akhilesh Pandey, Eric W. Stawiski, Steffen Durinck, Harsha Gowda, Leonard D. Goldstein, Mustafa A. Barbhuiya, Markus S. Schröder, Sreelakshmi K. Sreenivasamurthy, Sun-Whe Kim, Sameer Phalke, Kushal Suryamohan, Kayla Lee, Papia Chakraborty, Vasumathi Kode, Xiaoshan Shi, Aditi Chatterjee, Keshava Datta, Aafaque A. Khan, Tejaswini Subbannayya, Jing Wang, Subhra Chaudhuri, Sanjiv Gupta, Braj Raj Shrivastav, Bijay S. Jaiswal, Satish S. Poojary, Shushruta Bhunia, Patricia Garcia, Carolina Bizama, Lorena Rosa, Wooil Kwon, Hongbeom Kim, Youngmin Han, Thakur Deen Yadav, Vedam L. Ramprasad, Amitabha Chaudhuri, Zora Modrusan, Juan Carlos Roa, Pramod Kumar Tiwari, Jin-Young Jang, Somasekar Seshagiri
Published 2020-08-01

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.

by Theru A Sivakumaran, Robert P Igo, Jeffrey M Kidd, Andy Itsara, Laura J Kopplin, Wei Chen, Stephanie A Hagstrom, Neal S Peachey, Peter J Francis, Michael L Klein, Emily Y Chew, Vedam L Ramprasad, Wan-Ting Tay, Paul Mitchell, Mark Seielstad, Dwight E Stambolian, Albert O Edwards, Kristine E Lee, Dmitry V Leontiev, Gyungah Jun, Yang Wang, Liping Tian, Feiyou Qiu, Alice K Henning, Thomas LaFramboise, Parveen Sen, Manoharan Aarthi, Ronnie George, Rajiv Raman, Manmath Kumar Das, Lingam Vijaya, Govindasamy Kumaramanickavel, Tien Y Wong, Anand Swaroop, Goncalo R Abecasis, Ronald Klein, Barbara E K Klein, Deborah A Nickerson, Evan E Eichler, Sudha K Iyengar
Published 2018-01-01

A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.

by Theru A Sivakumaran, Robert P Igo, Jeffrey M Kidd, Andy Itsara, Laura J Kopplin, Wei Chen, Stephanie A Hagstrom, Neal S Peachey, Peter J Francis, Michael L Klein, Emily Y Chew, Vedam L Ramprasad, Wan-Ting Tay, Paul Mitchell, Mark Seielstad, Dwight E Stambolian, Albert O Edwards, Kristine E Lee, Dmitry V Leontiev, Gyungah Jun, Yang Wang, Liping Tian, Feiyou Qiu, Alice K Henning, Thomas LaFramboise, Parveen Sen, Manoharan Aarthi, Ronnie George, Rajiv Raman, Manmath Kumar Das, Lingam Vijaya, Govindasamy Kumaramanickavel, Tien Y Wong, Anand Swaroop, Goncalo R Abecasis, Ronald Klein, Barbara E K Klein, Deborah A Nickerson, Evan E Eichler, Sudha K Iyengar
Published 2011-01-01

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

by Monisha E Nongpiur, Chiea Chuen Khor, Hongyan Jia, Belinda K Cornes, Li-Jia Chen, Chunyan Qiao, K Saidas Nair, Ching-Yu Cheng, Liang Xu, Ronnie George, Do Tan, Khaled Abu-Amero, Shamira A Perera, Mineo Ozaki, Takanori Mizoguchi, Yasuo Kurimoto, Sancy Low, Liza-Sharmini A Tajudin, Ching-Lin Ho, Clement C Y Tham, Ileana Soto, Paul T K Chew, Hon-Tym Wong, Balekudaru Shantha, Masako Kuroda, Essam A Osman, Guangxian Tang, Sujie Fan, Hailin Meng, Hua Wang, Bo Feng, Victor H K Yong, Serena M L Ting, Yang Li, Ya-Xing Wang, Zheng Li, Raghavan Lavanya, Ren-Yi Wu, Ying-Feng Zheng, Daniel H Su, Seng-Chee Loon, Vernon K Y Yong, R Rand Allingham, Michael A Hauser, Nagaswamy Soumittra, Vedam L Ramprasad, Naushin Waseem, Azhany Yaakub, Kee-Seng Chia, Govindasamy Kumaramanickavel, Tina T Wong, Alicia C How, Tran Nguyen Bich Chau, Cameron P Simmons, Jin-Xin Bei, Yi-Xin Zeng, Shomi S Bhattacharya, Mingzhi Zhang, Donald T Tan, Yik-Ying Teo, Saleh A Al-Obeidan, Do Nhu Hon, E-Shyong Tai, Seang-Mei Saw, Paul J Foster, Lingam Vijaya, Jost B Jonas, Tien-Yin Wong, Simon W M John, Chi-Pui Pang, Eranga N Vithana, Ningli Wang, Tin Aung
Published 2014-03-01