Retinoblastoma genetics screening and clinical management
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
Published in BMC medical genomics (22.07.2021)
Published in BMC medical genomics (22.07.2021)
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Journal Article
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy
Soumittra, Nagasamy, Loganathan, Sampath K, Madhavan, Dharanija, Ramprasad, Vedam L, Arokiasamy, Tharigopala, Sumathi, Sundaram, Karthiyayini, Thirumalai, Rachapalli, Sudhir R, Kumaramanickavel, Govindasamy, Casey, Joseph R, Rajagopal, Rama
Published in Journal of human genetics (01.08.2014)
Published in Journal of human genetics (01.08.2014)
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Journal Article
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing
Shastry, Arun, Aravind, Sankaramoorthy, Sunil, Meeta, Ramesh, Keerthi, Ashley, Berty, T., Nithyanandan, Ramprasad, Vedam L., Gupta, Ravi, Seshagiri, Somasekar, Nongthomba, Upendra, Phalke, Sameer
Published in Molecular genetics & genomic medicine (01.05.2021)
Published in Molecular genetics & genomic medicine (01.05.2021)
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Journal Article
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians
Wang, Minxian, Menon, Ramesh, Mishra, Sanghamitra, Patel, Aniruddh P, Chaffin, Mark, Tanneeru, Deepak, Deshmukh, Manjari, Mathew, Oshin, Apte, Sanika, Devanboo, Christina S, Sundaram, Sumathi, Lakshmipathy, Praveena, Murugan, Sakthivel, Sharma, Krishna Kumar, Rajendran, Karthikeyan, 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, Di Angelantonio, Emanuele, Naheed, Aliya, Inouye, Michael, Chowdhury, Rajiv, Vedam, Ramprasad L, Kathiresan, Sekar, Gupta, Ravi, Khera, Amit V
Published in Journal of the American College of Cardiology (11.08.2020)
Published in Journal of the American College of Cardiology (11.08.2020)
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Journal Article
Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1
Das, Anirban, Ghosh, Priya, Zameer, Lateef, Ramprasad, Vedam L., Bhaduri, Anirban
Published in Pediatric hematology and oncology (17.02.2019)
Published in Pediatric hematology and oncology (17.02.2019)
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Journal Article
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum
Aggarwal, Shagun, Bhowmik, Aneek Das, Ramprasad, Vedam L., Murugan, Sakthivel, Dalal, Ashwin
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Journal Article
The Genetic Drivers of Juvenile, Young, and Early‐Onset Parkinson's Disease in India
Andrews, Shan V., Kukkle, Prashanth L., Menon, Ramesh, Geetha, Thenral S., Goyal, Vinay, Kandadai, Rukmini Mridula, Kumar, Hrishikesh, Borgohain, Rupam, Mukherjee, Adreesh, Wadia, Pettarusp M., Yadav, Ravi, Desai, Soaham, Kumar, Niraj, Joshi, Deepika, Murugan, Sakthivel, Biswas, Atanu, Pal, Pramod K., Oliver, Merina, Nair, Sandhya, Kayalvizhi, Anbu, Samson, Praveena L., Deshmukh, Manjari, Bassi, Akshi, Sandeep, Charugulla, Mandloi, Nitin, Davis, Oliver B., Roberts, Melissa A., Leto, Dara E., Henry, Anastasia G., Di Paolo, Gilbert, Muthane, Uday, Das, Shymal K., Peterson, Andrew S., Sandmann, Thomas, Gupta, Ravi, Ramprasad, Vedam L.
Published in Movement disorders (01.02.2024)
Published in Movement disorders (01.02.2024)
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Journal Article
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene
Bijarnia-Mahay, Sunita, Somashekar, Puneeth H, Kaur, Parneet, Kulshrestha, Samarth, Ramprasad, Vedam L, Murugan, Sakthivel, Sud, Seema, Shukla, Anju
Published in Journal of human genetics (01.03.2022)
Published in Journal of human genetics (01.03.2022)
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Journal Article
Clinical Study of 668 Indian Subjects with Juvenile, Young, and Early Onset Parkinson’s Disease
Kukkle, Prashanth L., Goyal, Vinay, Geetha, Thenral S., Mridula, Kandadai R., Kumar, Hrishikesh, Borgohain, Rupam, Mukherjee, Adreesh, Wadia, Pettarusp M., Yadav, Ravi, Desai, Soaham, Kumar, Niraj, Gupta, Ravi, Biswas, Atanu, Pal, Pramod K., Muthane, Uday, Das, Shymal K., Quinn, Niall, Ramprasad, Vedam L.
Published in Canadian journal of neurological sciences (01.01.2022)
Published in Canadian journal of neurological sciences (01.01.2022)
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Journal Article
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
Nguyen, Thong T., Poornachandra, B., Verma, Anshuman, Mehta, Ruchir A., Phalke, Sameer, Battu, Rajani, Ramprasad, Vedam L., Peterson, Andrew S., Ghosh, Arkasubhra, Seshagiri, Somasekar
Published in Scientific reports (05.07.2018)
Published in Scientific reports (05.07.2018)
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Journal Article
Resequencing CYP2D6 gene in Indian population: CYP2D641 identified as the major reduced function allele
Manoharan, Aarthi, Shewade, Deepak Gopal, Ravindranath, Pradeep Anand, Rajkumar, Ravi Philip, Ramprasad, Vedam L, Adithan, Surendiran, Damodaran, Solai Elango
Published in Pharmacogenomics (01.07.2019)
Published in Pharmacogenomics (01.07.2019)
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Journal Article
Molecular epidemiology of SARS-CoV-2 in healthcare workers and identification of viral genomic correlates of transmissibility and vaccine break through infection: A retrospective observational study from a cancer hospital in eastern India
Bhattacharya, Sanjay, Chatterji, Soumyadip, Chandy, Mammen, Mahajan, Aseem Yogishwar, Goel, Gaurav, Mishra, Deepak, Vivek, Priyanka, Das, Parijat, Mandal, Sudipto, Chugani, Anup, Mittal, Antra, Perumal, Rajadurai Chinnasamy, Ramprasad, Vedam L., Gupta, Ravi
Published in Indian journal of medical microbiology (01.01.2023)
Published in Indian journal of medical microbiology (01.01.2023)
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Journal Article
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred
Mishra, Ranjana, Jain, Vibha, Gupta, Deepti, Saxena, Renu, Kulshreshtha, Samarth, Ramprasad, Vedam L., Verma, Ishwar C., Dua Puri, Ratna
Published in Molecular syndromology (01.02.2020)
Published in Molecular syndromology (01.02.2020)
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Journal Article
Cost-efficient HIV-1 drug resistance surveillance using multiplexed high-throughput amplicon sequencing: implications for use in low- and middle-income countries
Ekici, Halime, Rao, Shwetha D, Sönnerborg, Anders, Ramprasad, Vedam L, Gupta, Ravi, Neogi, Ujjwal
Published in Journal of antimicrobial chemotherapy (01.12.2014)
Published in Journal of antimicrobial chemotherapy (01.12.2014)
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Journal Article
Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic
Pramanik, Raja, Chitikela, Sindhura, Deo, S V S, Gogia, Ajay, Batra, Atul, Kumar, Akash, Gupta, Ritu, Thakral, Deepshi, Ramprasad, Vedam L, Mathur, Sandeep, Sharma, D N, Sharma, Aparna, Mishra, Ashutosh, Bansal, Babul
Published in Ecancermedicalscience (2024)
Published in Ecancermedicalscience (2024)
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Journal Article
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease
Jeyabalan, Nallathambi, Ghosh, Arkasubhra, Kumaramanickavel, Govindasamy, Ganapathy, Aparna, Jacob, Jemima, Kiran, Ravi, Krishna, Shuba, Hariharan, Ramesh, Verma, Anshuman, Battu, Rajani, Ramprasad, Vedam L.
Published in BioMed research international (01.01.2015)
Published in BioMed research international (01.01.2015)
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Journal Article