Human 45,X fibroblast transcriptome reveals distinct differentially expressed genes including long noncoding RNAs potentially associated with the pathophysiology of Turner syndrome...

by Shriram N Rajpathak, Shamsudheen Karuthedath Vellarikkal, Ashok Patowary, Vinod Scaria, Sridhar Sivasubbu, Deepti D Deobagkar
Published 2014-01-01

Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess [version 2; referees: 2 approved]

by Ranjit Narayanan, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Vishal Dixit, Vinod Scaria, Sridhar Sivasubbu
Published 2017-09-01

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 2...

by Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria
Published 2016-07-01

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa [version 1...

by Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Sreelata Nair, Rowmika Ravi, Vigneshwar Senthivel, Sridhar Sivasubbu, Vinod Scaria
Published 2016-05-01

A genome-wide map of circular RNAs in adult zebrafish

by Disha Sharma, Paras Sehgal, Angom Ramcharan Singh, Shamsudheen Karuthedath Vellarikkal, Samatha Mathew, Rijith Jayarajan, Shruti Kapoor, Vinod Scaria, Sridhar Sivasubbu
Published 2017-10-01

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-li...

by Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu
Published 2017-08-01

RNA secondary structure profiling in zebrafish reveals unique regulatory features

by Kriti Kaushik, Ambily Sivadas, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Satyaprakash Pandey, Tavprithesh Sethi, Souvik Maiti, Vinod Scaria, Sridhar Sivasubbu
Published 2018-02-01

Aptamer-Assisted Detection of the Altered Expression of Estrogen Receptor Alpha in Human Breast Cancer.

by Rajesh Ahirwar, Shamsudheen Karuthedath Vellarikkal, Arghya Sett, Sridhar Sivasubbu, Vinod Scaria, Utpal Bora, Bibhuti Bhusan Borthakur, Amal Chandra Kataki, Jagannath Dev Sharma, Pradip Nahar
Published 2016-01-01

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency [version 2; referees: 2 approved, 1 no...

by Geeta Madathil Govindaraj, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Rowmika Ravi, Ankit Verma, Krishnan Chakkiyar, Machinari Puthenpurayil Jayakrishnan, Riyaz Arakkal, Revathi Raj, Rajeevan Kunnaruvath, Sridhar Sivasubbu, Vinod Scaria
Published 2017-10-01

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.

by Geeta Madathil Govindaraj, Abhinav Jain, Geetha Peethambaran, Rahul C Bhoyar, Shamsudheen Karuthedath Vellarikkal, Arvind Ganapati, Pulukool Sandhya, Athulya Edavazhippurath, Dhananjayan Dhanasooraj, Jayakrishnan Machinary Puthenpurayil, Krishnan Chakkiyar, Anushree Mishra, Arushi Batra, Anu Punnen, Sathish Kumar, Sridhar Sivasubbu, Vinod Scaria
Published 2020-01-01

Comparative whole-genome analysis of clinical isolates reveals characteristic architecture of Mycobacterium tuberculosis pangenome.

by Vinita Periwal, Ashok Patowary, Shamsudheen Karuthedath Vellarikkal, Anju Gupta, Meghna Singh, Ashish Mittal, Shamini Jeyapaul, Rajendra Kumar Chauhan, Ajay Vir Singh, Pravin Kumar Singh, Parul Garg, Viswa Mohan Katoch, Kiran Katoch, Devendra Singh Chauhan, Sridhar Sivasubbu, Vinod Scaria
Published 2015-01-01