Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum

著者: Nerakh, Gayatri, Ranganath, Prajnya, Murugan, Sakthivel
出版年 J Pediatr Genet (2021)

Immunodeficiency, Motor Delay, and Hypouricemia Caused by a Novel Mutation of Purine Nucleoside Phosphorylase Gene in an Indian Infant

著者: Shah, Nikit, Lingappa, Lokesh, Konanki, Ramesh, Rani, Sirisha, Vedam, Ramprasad, Murugan, Sakthivel
出版年 Ann Indian Acad Neurol (2019)

First Report of Kufor‐Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene

著者: Prashanth, L.K., Murugan, Sakthivel, Kamath, Vikram, Gupta, Ravi, Jadav, Rakesh, Sreekantaswamy, S., Ramprasad, Vedam L.
出版年 Mov Disord Clin Pract (2015)

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

著者: Ranganath, Prajnya, Perala, Sreeja, Nair, Lekshmi, Pamu, Pramod Kumar, Shankar, Aparna, Murugan, Sakthivel, Dalal, Ashwin
出版年 Eur J Hum Genet (2020)

A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

著者: Geetha, Thenral S., Lingappa, Lokesh, Jain, Abhishek Ravindra, Govindan, Hridya, Mandloi, Nitin, Murugan, Sakthivel, Gupta, Ravi, Vedam, Ramprasad
出版年 Mol Genet Genomic Med (2017)

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome

著者: Hulleman, John D., Nguyen, Annie, Ramprasad, V.L., Murugan, Sakthivel, Gupta, Ravi, Mahindrakar, Avinash, Angara, Ravi, Sankurathri, Chandrasekhar, Mootha, V. Vinod
出版年 Mol Vis (2016)

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India

著者: Yohe, Sophia, Sivasankar, Malaichamy, Ghosh, Anuprita, Ghosh, Arkasubhra, Holle, Jennifer, Murugan, Sakthivel, Gupta, Ravi, Schimmenti, Lisa A., Vedam, Ramprasad, Thyagarajan, Bharat
出版年 Mol Genet Genomic Med (2019)

Seven novel genetic variants in a North Indian cohort with classical homocystinuria

著者: Kaur, Rajdeep, Attri, Savita V., Saini, Arushi G., Sankhyan, Naveen, Singh, Satwinder, Faruq, Mohammed, Ramprasad, V. L., Sharda, Sheetal, Murugan, Sakthivel
出版年 Sci Rep (2020)

Infantile spasms: Etiology, lead time and treatment response in a resource limited setting

著者: Surana, Priyanka, Symonds, Joseph D., Srivastava, Prabhar, Geetha, Thenral S., Jain, Romit, Vedant, Ramprasad, Murugan, Sakthivel, Mahalingam, Subathra, Bhargava, Vivek, Goyal, Pradeep, Zuberi, Sameer M., Jain, Vivek
出版年 Epilepsy Behav Rep (2020)

Retinoblastoma genetics screening and clinical management

著者: Gupta, Himika, Malaichamy, Sivasankar, Mallipatna, Ashwin, Murugan, Sakthivel, Jeyabalan, Nallathambi, Suresh Babu, Vishnu, Ghosh, Anuprita, Ghosh, Arkasubhra, Santhosh, Sam, Seshagiri, Somasekar, Ramprasad, Vedam L., Kumaramanickavel, Govindasamy
出版年 BMC Med Genomics (2021)

Mutational Landscape of Esophageal Squamous Cell Carcinoma in an Indian Cohort

著者: Mangalaparthi, Kiran K., Patel, Krishna, Khan, Aafaque A., Manoharan, Malini, Karunakaran, Coral, Murugan, Sakthivel, Gupta, Ravi, Gupta, Rohit, Khanna-Gupta, Arati, Chaudhuri, Amitabha, Kumar, Prashant, Nair, Bipin, Kumar, Rekha V., Prasad, T. S. Keshava, Chatterjee, Aditi, Pandey, Akhilesh, Gowda, Harsha
出版年 Front Oncol (2020)

A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity

著者: Majumder, Snigdha, Shah, Rakshit, Elias, Jisha, Mistry, Yogesh, Coral, Karunakaran, Shah, Priyanka, Maurya, Anand Kumar, Mittal, Bharti, D’Silva, Jason K., Murugan, Sakthivel, Mahadevan, Lakshmi, Sathian, Rekha, Ramprasad, V. L., Chakraborty, Papia, Gupta, Ravi, Chaudhuri, Amitabha, Khanna-Gupta, Arati
出版年 PLoS One (2018)

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability

著者: Muthusamy, Babylakshmi, Selvan, Lakshmi Dhevi N., Nguyen, Thong T., Manoj, Jesna, Stawiski, Eric W., Jaiswal, Bijay S., Wang, Weiru, Raja, Remya, Ramprasad, Vedam Laxmi, Gupta, Ravi, Murugan, Sakthivel, Kadandale, Jayarama S., Prasad, T.S. Keshava, Reddy, Kavita, Peterson, Andrew, Pandey, Akhilesh, Seshagiri, Somasekar, Girimaji, Satish Chandra, Gowda, Harsha
出版年 OMICS (2017)

Molecular alterations associated with chronic exposure to cigarette smoke and chewing tobacco in normal oral keratinocytes

著者: Rajagopalan, Pavithra, Patel, Krishna, Jain, Ankit P., Nanjappa, Vishalakshi, Datta, Keshava K., Subbannayya, Tejaswini, Mangalaparthi, Kiran K., Kumari, Anjali, Manoharan, Malini, Coral, Karunakaran, Murugan, Sakthivel, Nair, Bipin, Prasad, T. S. Keshava, Mathur, Premendu P., Gupta, Ravi, Gupta, Rohit, Khanna-Gupta, Arati, Califano, Joseph, Sidransky, David, Gowda, Harsha, Chatterjee, Aditi
出版年 Cancer Biol Ther (2018)

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

著者: Mohan, Viswanathan, Radha, Venkatesan, Nguyen, Thong T., Stawiski, Eric W., Pahuja, Kanika Bajaj, Goldstein, Leonard D., Tom, Jennifer, Anjana, Ranjit Mohan, Kong-Beltran, Monica, Bhangale, Tushar, Jahnavi, Suresh, Chandni, Radhakrishnan, Gayathri, Vijay, George, Paul, Zhang, Na, Murugan, Sakthivel, Phalke, Sameer, Chaudhuri, Subhra, Gupta, Ravi, Zhang, Jingli, Santhosh, Sam, Stinson, Jeremy, Modrusan, Zora, Ramprasad, V. L., Seshagiri, Somasekar, Peterson, Andrew S.
出版年 BMC Med Genet (2018)

Developing Genome-wide Polygenic Risk Scores for Coronary Artery Disease in South Asians

著者: Wang, Minxian, Menon, Ramesh, Mishra, Sanghamitra, Patel, Aniruddh P., Chaffin, Mark, Tanneeru, Deepak, Deshmukh, Manjari, Mathew, Oshin, Apte, Sanika, Devanboo, Christina S, Sundaram, Sumathi, Samson, Praveena L, Murugan, Sakthivel, Sharma, Krishna Kumar, Karthikeyan, R, Santhosh, Sam, Thachathodiyl, Rajesh, Ahamed, Hisham, Balegadde, Aniketh Vijay, Alexander, Thomas, Swaminathan, Krishnan, Gupta, Rajeev, Mullasari, Ajit S, Sigamani, Alben, Kanchi, Muralidhar, Peterson, Andrew S., Butterworth, Adam S, Danesh, John, Angelantonio, Emanuele Di, Naheed, Aliya, Inouye, Michael, Chowdhury, Rajiv, Ramprasad, Vedam L, Kathiresan, Sekar, Gupta, Ravi, Khera, Amit V.
出版年 J Am Coll Cardiol (2020)