1. Shivaram S, Nagappa M, Seshagiri DV, Saini J, Govindaraj P, Sinha S, Bindu PS, Taly AB (2021). Leukodystrophy Due to eIF2B Mutations in Adults. Can J Neurol Sci. doi: 10.1017/cjn.2021.202.


2. Preethish-Kumar V, Shah A, Polavarapu K, Kumar M, Safai A, Vengalil S, Nashi S, Deepha S, Govindaraj P, Afsar M, Rajeswaran J, Nalini A, Saini J, Ingalhalikar M. Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform. J Neurol. doi: 10.1007/s00415-021-10789-y.


3. Huddar A*, Govindaraj P*, Chiplunkar S, Deepha S, Jessiena Ponmalar JN, Philip M, Nagappa M, Narayanappa G, Mahadevan A, Sinha S, Taly AB, Parayil Sankaran B (2021). Serum fibroblast growth factor 21 and growth differentiation factor 15: Two sensitive biomarkers in the diagnosis of mitochondrial disorders. Mitochondrion, 60:170-177. *Equal Contribution.


4. Sathe G, Deepha S, Gayathri N, Nagappa M, Sankaran BP, Taly AB, Khanna T, Pandey A, Govindaraj P* (2021). Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome. Mitochondrion, 58: 64-71. *Corresponding author.


5. Chakrabarty S*, Govindaraj P*, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P1, Mallya S, Deepha S, Jessiena Ponmalar JN, Arivinda HR, Meena AK, Jha RK, Sinha S, Gayathri N, Taly AB, Thangaraj K, Satyamoorthy K (2021). Contribution of Nuclear and Mitochondrial Gene Mutations in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome. Journal of Neurology, 268: 2192-2207. *Equal contribution.


6. Guo Le, Govindaraj P, Kievit M, de Coo IFM, Gerards M, Hellebrekers DMEI, Gayathri N, Taly AB Sankaran BP, Smeets HJM (2021). Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions. Neuromuscular Disorders (Inpress). doi.org/10.1016/j.nmd.2021.06.014.


7. Huddar A, Chiplunkar S, Nagappa M, Govindaraj P, Sinha S, Taly AB, Sankaran BP (2021). Child Neurology: Hereditary Folate Malabsorption. Neurology, 97 (1), doi: 10.1212/WNL.0000000000012083.


8. Nagappa M, Vandana VP, Chiplunkar S, Govindaraj P, Ponmalar JN, Gayathri N, Sinha S, Taly AB, Sankaran BP (2021). Infantile onset Encephalomyopathy, Heartblock and Sensory Neural Hearing loss: RMND1 Associated Mitochondrial Disease. Journal of Pediatric Neurology,19(03): 183-188.


9. Deepha S, Govindaraj P, Sankaran BP, Chiplunkar S, Kashinkunti C, Nunia V, Nagappa M, Sinha S, Khanna T, Thangaraj K, Taly AB, Gayathri N (2021). Clinico-pathological and molecular spectrum of mitochondrial polymerase γ mutations in a cohort from India. Journal of Molecular Neuroscience, doi: 10.1007/s12031-020-01765-8.


10. Govindaraj P* and Thangaraj K (2020). Targeting mitochondria for health and disease. Research Reports, doi:10.9777/rr.2020.10002. *Corresponding author.


11. Ranganayaki S, Govindaraj P, Gayathri N, Bharath MM (2020). Exposure to the neurotoxin 3-nitropropionic acid in neuronal cells induces unique histone acetylation pattern: Implications for neurodegeneration. Neurochemistry International, 140: 104846.


12. Govindaraj P, Bindu PS, Nagappa M, Arivinda HR, Deepha S, Jessiena Ponmalar JN, Sinha S, Gayathri N, Taly AB (2020). Child Neurology: Ethylmalonic encephalopathy. Neurology, 24;94(12):e1336-e1339.


13. Parayil Sankaran B, Nagappa M, Chiplunkar S, Kothari S, Govindaraj P, Sinha S, Taly AB (2020). Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel. Journal of Child Neurology. 35(7):433-441.


14. Nagappa M, Sharma S, Govindaraj P, Chickabasaviah YT, Siram R, Shroti A, Debnath M, Sinha S, Bindu PS, Taly AB (2020). PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India. Journal of Molecular Neuroscience, 70(5):778-789.


15. Bandari AK, Muthusamy B, Bhat S, Govindaraj P, Rajagopalan P, Dalvi A, Shankar S, Raja R, Reddy KS, Madkaikar MR, Pandey A (2019). A Novel Splice Site Mutation in IFNGR2 in Patients with Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases. Frontiers in Immunology, 10: 1964.


16. Govindaraj P, Rani B, Sundaravadivel P, Vanniarajan A, Indumathi KP, Khan KA, Dhandapany PS, Rani DS, Tamang R, Bahl A, Narasimhan C, Rakshak D, Rathinavel A, Premkumar K, Khullar M, Thangaraj K (2019). Mitochondrial genome variations in idiopathic dilated cardiomyopathy. Mitochondrion, 48: 51-59.


17. Bindu PS, Nagappa M, Chiplunkar S, Govindaraj P, Mathuranath PS, Sinha S, Taly AB (2018). West syndrome, Pontocerebellar hypoplasia and Hypomyelination in a 6-month-old boy. Neurology, 91: 1-5.


18. Tamang R, Chaubey G, Nandan A, Govindaraj P, Singh VP, Rai N, Mallick CB, Sharma V, Sharma VK, Shah AM, Lalremruata A, Reddy AG, Rani DS, Doviah P, Negi N, Hadid Y, Pande V, Vishnipriya S, Van Driem G, Behar DM, Sharma T, Singh L, Villems R, Thangaraj K (2018). Reconstructing the demographic history of the Himalayan and adjoining populations. Human Genetics, 132: 129-139.


19. Bindu PS, Sonam K, Chiplunkar S, Govindaraj P, Nagappa M, Vekhande CC, Aravinda HR, Ponmalar JNJ, Mahadevan A, Gayathri N, Bharath MMS, Sinha S, Taly AB (2018). Mitochondrial leukoencephalpathies: A border zone between acquired and inherited white matter disorders in children? Multiple Sclerosis Related Disorders, 20: 84-92.


20. Khan NA*, Govindaraj P*, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin SM, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K (2018). Author response: Penetrance of the LHON mutation m.11778G>A may depend on factors other than haplotype or heteroplasmy rate. Investigative Ophthalmology Visual Science, 59: 382.*Equal contribution.


21. Bindu PS, Sonam K, Govindaraj P, Govindaraju C, Chiplunkar S, Nagappa M, Kumar R, Vekhande CC, Arvinda HR, Gayathri N, Srinivas Bharath MM, Ponmalar JNJ, Philip M, Vandana VP, Khan NA, Nunia V, Paramasivam A, Sinha S, Thangaraj K, Taly AB (2018). Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. Clinical Neurology Neurosurgery, 164: 182-189.


22. Khan NA*, Govindaraj P*, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin SM, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K (2017). LHON-specific mutation m.11778G>A exist on diverse mitochondrial haplogroups in India. Investigative Ophthalmology Visual Science, 58: 3923-3930.*Equal contribution.


23. Sahakyan H, Hooshiar Kashani B, Tamang R, Kushniarevich A, Francis A, Costa MD, Pathak AK, Khachatryan Z, Sharma I, van Oven M, Parik J, Hovhannisyan H, Metspalu E, Pennarun E, Karmin M, Tamm E, Tambets K, Bahmanimehr A, Reisberg T, Reidla M, Achilli A, Olivieri A, Gandini F, Perego UA, Al-Zahery N, Houshmand M, Sanati MH, Soares P, Rai E, Šarac J, Šarić T, Sharma V, Pereira L, Fernandes V, Černý V, Farjadian S, Singh DP, Azakli H, Üstek D, Ekomasova Trofimova N, Kutuev I, Litvinov S, Bermisheva M, Khusnutdinova EK, Rai N, Singh M, Singh VK, Reddy AG, Tolk HV, Cvjetan S, Lauc LB, Rudan P, Michalodimitrakis EN, Anagnou NP, Pappa KI, Golubenko MV, Orekhov V, Borinskaya SA, Kaldma K, Schauer MA, Simionescu M, Gusar V, Grechanina E, Govindaraj P, Voevoda M, Damba L, Sharma S, Singh L, Semino O, Behar DM, Yepiskoposyan L, Richards MB, Metspalu M, Kivisild T, Thangaraj K, Endicott P, Chaubey G, Torroni A, Villems R (2017). Origin and spread of human mitochondrial DNA haplogroup U7. Scientific Reports, 7: 46044.


24. Chiplunkar S, Bindu PS, Nagappa M, Panikulam BB, Arvinda HR, Govindaraj P, Srinivas Bharath MM, Gayathri N, Jessiena Ponmalar JN, Mathuranath PS, Sinha S, Taly AB (2017). Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency. Metabolic Brain Diseases, 32: 967-970.


25. Sonam K, Bindu PS, Bharath MS, Govindaraj P, Gayathri N, Arvinda HR, Chiplunkar S, Nagappa M, Sinha S, Khan NA, Nunia V, Paramasivam A, Thangaraj K, Taly AB. (2017). Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India. Mitochondrion, 32: 42-49.


26. Nagappa M, Bindu PS, Chiplunkar S, Govindaraj P, Narayanappa G, Krishnan A, Bharath MM, Swaminathan A, Saini J, Arvinda HR, Sinha S, Mathuranath PS, Taly AB (2017). Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. Brain Development, 39(2): 161-165.


27. Chaubey G, Govindaraj P, Rai N, Driem GV, Thangaraj K (2016) .The genome-wide analysis of the Bhils: The second largest tribal population of India. Man In India: an Int J Anthropology 95(4): 279-289.


28. Vandana VP, Bindu PS, Sonam K, Govindaraj P, Chiplunkar S, Gayathri N, Govindaraj C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K, Taly AB (2016). Reply to Letter to the editor: Hearing impairment in m.3243A>G carriers requires comprehensive work – and follow-up. Clinical Neurology and Neurosurgery, 150: 198-199.


29. Chiplunkar S, Bindu PS, Nagappa M, Bineesh C, Govindaraj P, Gayathri N, Bharath MM, Arvinda HR, Mathuranath PS, Sinha S, Taly AB (2016). Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1. Metabolic Brain Disease, 31(5): 1195-1198.


30. Vandana VP, Bindu PS, Sonam K, Govindaraj P, Taly AB, Gayathri N, Chiplunkar S, Govindaraju C, Arvinda HR, Nagappa M, Sinha S, Thangaraj K (2016). Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. Clinical Neurology and Neurosurgery, 148:17-21.


31. Nizamuddin S, Govindaraj P, Saxena S, Kashyap M, Mishra A, Singh S, Rotti H, Raval R, Nayak J, Bhat BK, Prasanna BV, Dhumal VR, Bhale S, Joshi KS, Dedge AP, Bharadwaj R, Gangadharan GG, Nair S, Gopinath PM, Patwardhan B, Kondaiah P, Satyamoorthy K, Valiathan MS, Thangaraj K (2016). Reply to ‘Lack of replicaton of assocaition of THSD7A with obesity. International Journal of Obesity (Lond). 27 (4): 727-28.


32. Bindu PS, Govindaraju C, Sonam K, Nagappa M, Chiplunkar S, Kumar R, Gayathri N, Bharath MM, Arvinda HR, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K, Taly AB (2016). Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion, 27: 1-5.


33. Ramakrishnan S, Yadav R, Adwani S, Mustare V, Kulkarni GB, Gayathri N, Govindaraj P, Thangaraj K (2015). Vocal cord plasy in a case of chronic progressive external opthalmoplegia. Annals of Indian Academy of Neurology, 18:481-483.


34. Govindaraj P, Nizamuddin S, Sharath A, Jyothi V, Rotti H, Raval R, Nayak J, Bhat BK, Prasanna BV, Shintre P, Sule M, Joshi KS, Dedge AP, Bharadwaj R, Gangadharan GG, Nair S, Gopinath PM, Patwardhan B, Kondaiah P, Satyamoorthy K, Valiathan MV, Thangaraj K (2015). Genome-wide analysis correlates Ayurveda Prakriti. Scientific Reports, 5, 15786.


35. Singh I, Nunia V, Sharma R, Barupal J, Govindaraj P, Jain R, Gupta GN, Goyal PK (2015). Mutational analysis of telomere complex genes in Indian population with Acquired Aplastic Anemia. Leukemia Research, 39: 1263-1269.


36. Nizamuddin S, Govindaraj P, Saxena S, Kashyap M, Mishra A, Singh S, Rotti H, Raval R, Nayak J, Bhat BK, Prasanna BV, Dhumal VR, Bhale S, Joshi KS, Dedge AP, Bharadwaj R, Gangadharan GG, Nair S, Gopinath PM, Patwardhan B, Kondaiah P, Satyamoorthy K, Valiathan MS, Thangaraj K (2015). A novel gene THSD7A is associated with obesity. International Journal of Obesity, 39: 1662-1665.


37. Bindu PS, Arvinda H, Taly AB, Govindaraju C, Sonam K, Chiplunkar S, Kumar R, Gayathri N, Bharath Mm S, Nagappa M, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K (2015). Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion, 25: 6-16.


38. Thanumalayan S, Sehagal P, Muralikrishna B, Redij AG, Rani DS, Govindaraj P, Khullar M, Bahl A, Thangaraj K, Parnaik VK (2015). A rare mutation in Lamin A gene is associated with dilated cardiomyopathy in Indian patient. European Journal of Molecular Biology and Biochemistry, 5: 190-196.


39. Sonam K, Bindu PS, Taly AB, Govindaraju C, Gayathri N, Arvinda HR, Nagappa M, Sinha S, Khan NA, Govindaraj P, Thangaraj K (2015). Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene. Neuropediatrics, 46(4):277-281.


40. Govindaraj P, Khan NA, Rani B, Rani DS, Selvaraj P, Jyothi V, Bahl A, Narasimhan C, Rakshak D, Premkumar K, Khullar M, Thangaraj K (2015). Response to Letter to Editor "Mitochondrial haplogroups are associated with hypertrophic cardiomyopathy in the Indian populations". Mitochondrion, 20: 103-104.


41. Rotti H, Mallya S, Kabekkodu SP, Chakrabarty S, Bhale S, Bharadwaj R, Bhat BK, Dedge AP, Dhumal VR, Gangadharan GG, Gopinath PM, Govindaraj P, Joshi KS, Kondaiah P, Nair S, Nair SN, Nayak J, Prasanna BV, Shintre P, Sule M, Thangaraj K, Patwardhan B, Valiathan MV, Satyamoorthy K (2015). DNA methylation analysis of phenotype specific stratified Indian population. Journal of Translational Medicine, 13(1):151.


42. Govindaraj P, Khan NA, Rani B, Rani DS, Selvaraj P, Jyothi V, Bahl A, Narasimhan C, Rakshak D, Premkumar K, Khullar M, Thangaraj K (2014). Mitochondrial DNA variations associated with hypertrophic cardiomyopathy. Mitochondrion, 16: 65-72.


43. Dhandapany PS, Razzaque A, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD(2014). RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genetics, 46(6): 635-639.


44. Chaubey G, Singh M, Crivellaro F, Tamang R, Nandan A, Singh K, Sharma V, Pathak AK, Shah A, Sharma V, Ilumae AM, Singh VP, Rai N, Karmin M, Phillip A, Verma A, Singh VK, Li B, Govindaraj P, Chaubey AK, Dubey PK, Reddy AG, Premkumar K, Vishnupriya S, Pande V, Parik J, Rootsi S, Endicott P, Metspalu M, Lahr MM, van Driem G, Villems R, Kivisild T, Singh L, Thangaraj K (2014). Unraveling the distinct strains of Tharu ancestry. European Journal of Human Genetics, 1-9.


45. Khan NA, Govindaraj P, Meena AK, Thangaraj K (2014). Mitochondrial disorders: Challenges in diagnosis and treatment. Indian Journal of Medical Research,141: 13-26.


46. Rotti H, Raval R, Anchan S, Bhale S, Bharadwaj R, Bhat BK, Dedge AP, Dhumal VR, Gangadharan GG, Girijakumari TK, Gopinath PM, Govindaraj P, Halder S, Joshi KS, Kabekkodu SP, Kamath A, Kondaiah P, Kukreja H, Kumar KL, Nair S, Nair SN, Nayak J, Prasanna BV, Rashmishree M, Sharanprasad K, Thangaraj K, Patwardhan B, Satyamoorthy K, Valiathan MV (2014). Determinants of human constitutional types-Prakriti from Indian traditional medicine and correlation with contemporary science. Journal of Ayurveda and Integrative Medicine, 5(3): 167-175.


47. Govindaraj P, Nalini A, Nithin Krishna, Sharath A, Khan NA, Tamang R, Gourie-Devi M, Brown RH, Thangaraj K (2013). Mitochondrial DNA Variations in Madras Motor Neuron Disease. Mitochondrion, 13: 721-728.


48. Francis A, Pooja S, Rajender S, Govindaraj P, Tipirisetti NR, Surekha D, Rao DR, Rao L, Ramachandra L, Vishnupriya S, Ramalingam K, Satyamoorthy K, Thangaraj K (2013). A mitochondrial variant 10398G>A in breast cancer among South Indians: an original study with meta-analysis. Mitochondrion,13: 559-565.


49. Moorjani P, Thangaraj K, Patterson N, Lipson M, Loh P, Govindaraj P, Berger B, Reich D, Singh L (2013). Genetic evidences for recent population mixture in India. The American Journal of Human Genetics, 93: 1-17.


50. Khan NA, Govindaraj P, Jyothi V, Meena AK, Thangaraj K (2013). Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy. Molecular Vision, 19: 1282 -1289.


51. Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K (2013). Haplogroup heterogeneity of LHON patients carrying m.14484T>C mutation in India. Investigative Ophthalmology and Visual Science, 54 (6): 3999 – 4005.


52. Gupta M, Madkaikar M, Rao VB, Mishra A, Govindaraj P, Thangaraj K, Ghosh K (2013). Mitochondrial DNA variations in myelodysplastic syndrome. Annals of Hematology, 92: 871 – 876.


53. Shamsi MB, Govindaraj P, Chawla L, Malhotra N, Singh N, Mittal S, Talwar P, Thangaraj K, Dada R (2013). Mitochondrial DNA Variations in ova and blastocyst: Implication in assisted reproduction. Mitochondrion, 13: 96-105.


54. Chakrabarty S, D'Souza RR, Bellampalli R, Rotti H, Saadi AV, Gopinath PM, Acharya RV, Govindaraj P, Thangaraj K, Satyamoorthy K (2012). Comprehensive DNA copy number profile and BAC library construction of an Indian individual. Gene, 500(2): 186-93.


55. Elango S*, Govindaraj P*, Vishwanadha VP, Reddy AG, Tamang R, Muthusami U, Kunnoth S, Koyilil VK, Lakshman M, Shanmugasundharam N, Singh L, Thangaraj K (2011). Analysis of mitochondrial genome revealed a rare 50bp deletion and substitutions in a family with hypertension. Mitochondrion, 11: 878 -885. * Equal contribution


56. Shah AM, Tamang R, Moorjani P, Rani DR, Govindaraj P, Kulkarni G, Bhattacharya T, Mustak MS, Bhaskar LV, Reddy AG, Gadhvi D, Gai PB, Chaubey G, Patterson N, Reich D, Tyler-Smith C, Singh L, Thangaraj K (2011). Indian Siddis: African Descendants with Indian Admixture. The American Journal of Human Genetics, 89: 154-161.


57. Govindaraj P, Khan NA, Gopalakrishna P, Chandra RV, Vanniarajan A, Reddy AA, Singh S, Kumaresan R, Srinivas G, Singh L, Thangaraj K (2011). Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis. Mitochondrion, 11: 504 -512.


58. Vanniarajan A, Govindaraj P, Carlus SJ, Aruna M, Aruna P, Kumar A, Jayakar RI, Lionel AC, Gupta S, Rao L, Gupta NJ, Chakravarthy B, Deenadayal M, Selvaraj K, Andal S, Reddy BM, Singh L, Thangaraj K (2011). Mitochondrial DNA variations associated with recurrent pregnancy loss among Indian women. Mitochondrion, 11: 450 - 456.


59. Sundaram C, Meena AK, Uppin Megha S, Govindaraj P, Vanniarajan A, Thangaraj K, Kaul S, Kekunnaya R, Murthy JM (2010). Chronic progressive external opthalmoplegia (CPEO) of mitochondrial origin: Contribution of muscle biopsy and genetics to the diagnosis. Clinical Journal of Neuroscience, 8(4): 535 – 538.


60. Rani DS, Dhandapany PS, Nallari P, Govindaraj P, Singh L, Thangaraj K (2010). Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India. Mitochondrion, 10: 166-73.

Book Chapters

1. Bindu PS, Chiplunkar S, Vandana VP, Nagappa M, Govindaraj P, Taly AB (2019). Huppke-Brendel Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.


2. Govindaraj P, Khan NA, Vanniarajan A, Thangaraj K (2009). Mitochondrial dysfunction and diseases. Reviews in Neurology (continuing Medical Education Program of Indian Academy of Neurology). Chapter4, 26 – 56.