S. Murugan

发表

Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians.

J. Danesh, A. Khera, M. Inouye, 2020, Journal of the American College of Cardiology.

GeNeViSTA The Utility and Futility of Targeted Next Generation Sequencing for Carrier Detection in At Risk Couples

R. Saxena, S. Yamaguchi, S. Murugan, 2016 .

Asparagine Synthetase deficiency-report of a novel mutation and review of literature

Vishal Vishnu Tewari, M. Kabra, P. Kaur, 2017, Metabolic Brain Disease.

Induced To Differentiation and Morphogenesis of Pancreatic Islet Clusters: Effects on Glycated Fetal Bovine Serum

S. Murugan, I. Nishigaki, G. Gunassekaran, 2016 .

Mutational Landscape of Esophageal Squamous Cell Carcinoma in an Indian Cohort

A. Pandey, A. Chatterjee, H. Gowda, 2020, Frontiers in Oncology.

Study on the Anticarcinogenic Efficacy of Withaferin- An In DEN Induced Hepatocellular Carcinoma: Morphology and Histopathology.

S. Murugan, Shilpa Shankar, V. Babu, 2015 .

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

S. Zuberi, S. Murugan, J. Symonds, 2020, Epilepsy & behavior reports.

Whole genome enrichment approach for rapid detection of Mycobacterium tuberculosis and drug resistance-associated mutations from direct sputum sequencing.

C. Rodrigues, Sushri Priyadarshini, S. Murugan, 2020, Tuberculosis.

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

J. Danesh, M. Inouye, S. Kathiresan, 2020 .

Metabolic and Genetic Evaluation in Children with Nephrolithiasis

A. Sinha, A. Bagga, A. Seth, 2022, Indian Journal of Pediatrics.

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

A. Dalal, A. Shankar, S. Murugan, 2020, European Journal of Human Genetics.

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

S. Murugan, P. Ranganath, Gayatri Nerakh, 2020, Journal of Pediatric Genetics.

Isolation of WithaferinA from Withania Somnifera plant root and its effects on cancer rats

S. Murugan, R. Sundaram, D. Sakthisekaran, 2015 .

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

Amitabha Chaudhuri, Y. Mistry, S. Murugan, 2018, PloS one.

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

Leonard D. Goldstein, V. Mohan, V. Gayathri, 2018, BMC Medical Genetics.

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

J. Hulleman, S. Murugan, Ravi Gupta, 2016, Molecular vision.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Srinivas K. Rao, S. Murugan, D. Nancarrow, 2005, Investigative ophthalmology & visual science.

Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.

B. Lakshmi, S. Murugan, Arthika Chandramohan, 2010, The Indian journal of medical research.

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

L. Lingappa, S. Murugan, Ramprasad Vedam, 2017, Molecular genetics & genomic medicine.

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

Vishalakshi Nanjappa, Tejaswini Subbannayya, K. Datta, 2017, Cancer biology & therapy.

A Study on the efficacy of Withaferin-A in reducing oxidative stress against DEN induced hepatocellular carcinoma

Journals Iosr, G. Nithya, S. Murugan, 2015 .

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

M. Faruq, R. Kaur, A. Saini, 2020, Scientific Reports.

Serosurvey of rubella in five blocks of Tamil Nadu.

Mohana, S. Murugan, N. Ramamurty, 2006, The Indian journal of medical research.

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

Arkasubhra Ghosh, L. Schimmenti, S. Murugan, 2019, Molecular genetics & genomic medicine.

Retinoblastoma Mutational Screening in India: Opportunities and Challenges in Clinical Decisions and Genetic Counselling

S. Seshagiri, Arkasubhra Ghosh, S. Murugan, 2021 .

Metabolic and Genetic Evaluation in Children with Nephrolithiasis

A. Sinha, A. Bagga, A. Seth, 2022, Indian Journal of Pediatrics.

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

A. Pandey, Babylakshmi Muthusamy, L. D. N. Selvan, 2017, Omics : a journal of integrative biology.

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

L. Lingappa, N. Shah, Ramesh Konanki, 2019, Annals of Indian Academy of Neurology.

Retinoblastoma genetics screening and clinical management

S. Santhosh, S. Seshagiri, Arkasubhra Ghosh, 2021, BMC medical genomics.

The genetic drivers of juvenile, young, and early-onset Parkinson's Disease in India

T. Sandmann, U. Muthane, R. Borgohain, 2023, medRxiv.

Asparagine Synthetase deficiency-report of a novel mutation and review of literature

Vishal Vishnu Tewari, M. Kabra, P. Kaur, 2017, Metabolic Brain Disease.

South Asian medical cohorts reveal strong founder effects and high rates of homozygosity

J. Danesh, P. Kwok, J. Wall, 2023, Nature communications.

Plasma vitamin-A and erythrocyte riboflavin in school children.

B. Belavady., S. Murugan, T. Susheela, 1977, The Indian journal of medical research.

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

S. Murugan, Ravi Gupta, V. Kamath, 2015, Movement disorders clinical practice.

GIS based landslide susceptibility mapping and assessment using weighted overlay method in Wayanad: A part of Western Ghats, Kerala

S. Murugan, Sampathkumar Velusamy, Manoj Shanmugamoorthy, 2023, Urban Climate.

A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

A. Dalal, S. Aggarwal, A. D. Bhowmik, 2016, American journal of medical genetics. Part A.