Danda S, van Rahden VA, John D, Paul P, Raju R, Koshy S, Kutsche K. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome. Mol Syndromol. 2014 Aug;5(5):251-6. doi: 10.1159/000365768. Epub 2014 Aug 1. PMID: 25337074; PMCID: PMC4188163.

Kumaran D, Balagopal K, Tharmaraj RG, Aaron S, George K, Muliyil J, Sivadasan A, Danda S, Alexander M, Hasan G. Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort. BMC Med Genet. 2014 Oct 25;15:114. doi: 10.1186/s12881-014-0114-5. PMID: 25344417; PMCID: PMC4411758. Link

Danda S, Thomas BM, Paramasivam G, Thomas R, Mathew J, Danda D. A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome. Indian J Med Res. 2019 Jan;149(1):47-50. doi: 10.4103/ijmr.IJMR_1977_16. PMID: 31115374; PMCID: PMC6507534.

Augustine AM, Jana AK, Kuruvilla KA, Danda S, Lepcha A, Ebenezer J, Paul RR, Tyagi A, Balraj A. Neonatal hearing screening--experience from a tertiary care hospital in southern India. Indian Pediatr. 2014 Mar;51(3):179-83. doi: 10.1007/s13312-014-0380-5. Epub 2013 Oct 5. PMID: 24277966.

Sunny AP, Arunachal G, Danda S. Van der Woude Syndrome: IRF6 Mutations. Indian J Pediatr. 2019 Nov;86(11):1070-1071. doi: 10.1007/s12098-019-03058-4. Epub 2019 Aug 29. PMID: 31468312.

Nemani S, Agrawal B, Danda S, George B. Gaucher Disease Presenting in an Adult with Intracerebral Bleed. J Assoc Physicians India. 2017 Apr;65(4):89-90. PMID: 28527173. Link

Danda S, van Rahden VA, John D, Paul P, Raju R, Koshy S, Kutsche K. Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome. Mol Syndromol. 2014 Aug;5(5):251-6. doi: 10.1159/000365768. Epub 2014 Aug 1. PMID: 25337074; PMCID: PMC4188163.

Kumaran D, Balagopal K, Tharmaraj RG, Aaron S, George K, Muliyil J, Sivadasan A, Danda S, Alexander M, Hasan G. Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort. BMC Med Genet. 2014 Oct 25;15:114. doi: 10.1186/s12881-014-0114-5. PMID: 25344417; PMCID: PMC4411758. Link

Danda S, Thomas BM, Paramasivam G, Thomas R, Mathew J, Danda D. A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome. Indian J Med Res. 2019 Jan;149(1):47-50. doi: 10.4103/ijmr.IJMR_1977_16. PMID: 31115374; PMCID: PMC6507534.

Augustine AM, Jana AK, Kuruvilla KA, Danda S, Lepcha A, Ebenezer J, Paul RR, Tyagi A, Balraj A. Neonatal hearing screening--experience from a tertiary care hospital in southern India. Indian Pediatr. 2014 Mar;51(3):179-83. doi: 10.1007/s13312-014-0380-5. Epub 2013 Oct 5. PMID: 24277966.

Sunny AP, Arunachal G, Danda S. Van der Woude Syndrome: IRF6 Mutations. Indian J Pediatr. 2019 Nov;86(11):1070-1071. doi: 10.1007/s12098-019-03058-4. Epub 2019 Aug 29. PMID: 31468312.

Nemani S, Agrawal B, Danda S, George B. Gaucher Disease Presenting in an Adult with Intracerebral Bleed. J Assoc Physicians India. 2017 Apr;65(4):89-90. PMID: 28527173. Link

Malik P, Muthusamy K, C M, Danda S, Sudhakar SV. Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis. Neurology. 2019 Apr 30;92(18):e2176-e2177. doi: 10.1212/WNL.0000000000007406. PMID: 31036581.

Mammen S, Keshava SN, Danda S, Raju R, Chacko AG. Endovascular management of carotid-cavernous fistula in Ehlers-Danlos syndrome Type IV. Neurol India. 2012 Jan-Feb;60(1):119-21. doi: 10.4103/0028-3886.93616. PMID: 22406803.

Shah K, Sreekanth R, Thomas B, Danda S. Tel Hashomer camptodactyly syndrome: a case report. West Indian Med J. 2013 Jan;62(1):81-3. PMID: 24171333.

Goel, Ruchika, Kabeerdoss, Jayakanthan, Mohan, Hindhumathi, Danda, Sumita, Jayaseelan, Visali, Kumar, T. Sathish, Jude, John, Bacon, Paul, Joseph, George and Danda, Debashish Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype International Journal of Rheumatic Diseases; 2018, 21 (2): 532-540 Link

Kabeerdoss J, Thomas M, Goel R, Mohan H, Danda S, L J, Danda D. High expression of S100 calgranulin genes in peripheral blood mononuclear cells from patients with Takayasu arteritis. Cytokine. 2019 Feb;114:61-66. doi: 10.1016/j.cyto.2018.11.033. Epub 2018 Dec 26. PMID: 30594066.

Mistry, P. K., Balwani, M., Baris, H. N., Turkia, H. B., Burrow, T. A., Charrow, J., Cox, G. F., Danda, S., Dragosky, M., Drelichman, G., El-Beshlawy, A., Fraga, C., Freisens, S., Gaemers, S., Hadjiev, E., Kishnani, P. S., Lukina, E., Maison-Blanche, P., Martins, A. M., Pastores, G., Petakov, M., Peterschmitt, M. J., Rosenbaum, H., Rosenbloom, B., Underhill, L. H. and Cox, T. M. Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1 Blood Cells Mol Dis; 2018, 71 71-74 Link

Danda D, Goel R, Danda S, Mohan H, Joseph G, Kabeerdoss J, Nath SK. Interleukin-17F and interleukin-6 gene polymorphisms in Asian Indian patients with Takayasu arteritis. Hum Immunol. 2017 Jul-Aug;78(7-8):515-520. doi: 10.1016/j.humimm.2017.04.008. Epub 2017 Apr 22. PMID: 28438554.

Nair AM, Goel R, Hindhumati M, Shah K, Chandana P, Jayaseelan V, Jayakanthan K, Joseph G, Danda S, Danda D. C-reactive protein gene polymorphisms (rs1205) in Asian Indian patients with Takayasu arteritis: Associations and phenotype correlations. Int J Rheum Dis. 2018 Mar;21(3):732-739. doi: 10.1111/1756-185X.13180. Epub 2017 Oct 11. PMID: 29024426.

Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V. Three siblings with Woodhouse-Sakati syndrome in an Indian family. Clin Dysmorphol. 2008 Jan;17(1):57-60. doi: 10.1097/MCD.0b013e3282beb59e. PMID: 18049083. Link

Shah K, Sreekanth R, Thomas B, Danda S. Tel Hashomer camptodactyly syndrome: a case report. West Indian Med J. 2013 Jan;62(1):81-3. PMID: 24171333. Link

Korula S, Danda S, Paul PG, Mathai S, Simon A. Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study. J Clin Exp Hepatol. 2020 May-Jun;10(3):222-227. doi: 10.1016/j.jceh.2019.07.007. Epub 2019 Jul 25. PMID: 32405178; PMCID: PMC7212290.

Sunny AP, Arunachal G, Danda S. Van der Woude Syndrome: IRF6 Mutations. Indian J Pediatr. 2019 Nov;86(11):1070-1071. doi: 10.1007/s12098-019-03058-4. Epub 2019 Aug 29. PMID: 31468312. Link

Malik P, Muthusamy K, C M, Danda S, Sudhakar SV. Teaching NeuroImages: Wishbone pattern of iron accumulation: A characteristic imaging sign in GM1 gangliosidosis. Neurology. 2019 Apr 30;92(18):e2176-e2177. doi: 10.1212/WNL.0000000000007406. PMID: 31036581.

Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1. PMID: 30764785; PMCID: PMC6376752.

Selvam P, Arunachal G, Danda S, Chapla A, Sivadasan A, Alexander M, Thomas MM, Thomas NJ. Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort. J Clin Neuromuscul Dis. 2018 Sep;20(1):14-27. doi: 10.1097/CND.0000000000000222. PMID: 30124556.

Ekbote AV, Danda D, Kumar S, Danda S, Madhuri V, Gibikote S. A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis. Semin Arthritis Rheum. 2013 Jun;42(6):582-9. doi: 10.1016/j.semarthrit.2012.09.001. Epub 2012 Dec 25. PMID: 23270760.

Barney AM, Danda S, Abraham A, Fouzia NA, Gowdra A, Abraham SSC, Sony M, Das S, Korula S, Mathai S, Simon A, Kumar S. Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study. Public Health Genomics. 2021;24(3-4):139-148. doi: 10.1159/000514507. Epub 2021 Apr 6. PMID: 33823526.

M. Kumar, S. Danda, H. Reddy, J. S, G. Paul, S. Varkki, 158: Late diagnosis of cystic fibrosis after first decade of life: Clinical observations of a milder phenotype in India, Journal of Cystic Fibrosis, Volume 20, Supplement 2, 2021, Pages S78-S79, ISSN 1569-1993, https://doi.org/10.1016/S1569-1993(21)01583-6. (https://www.sciencedirect.com/science/article/pii/S1569199321015836) Link

Dutta AK, Danda S. Restrictive Dermopathy. Pediatr Neonatol. 2016 Jun;57(3):259. doi: 10.1016/j.pedneo.2015.09.005. Epub 2015 Oct 28. PMID: 26627141. Link

Abraham SSC, Yoganathan S, Koshy B, Oommen SP, Simon A, Mathai S, Korula S, Mathew L, Sathishkumar D, Jasper A, George R, Danda S. Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent. Eur J Med Genet. 2021 Sep;64(9):104291. doi: 10.1016/j.ejmg.2021.104291. Epub 2021 Jul 22. PMID: 34303877.

Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, Danda S, Gupta R, Sankar HV, Bhavani GS, Girisha KM, Phadke SR, Ranganath P, Bashyam MD. Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India. Am J Med Genet A. 2021 Dec 4. doi: 10.1002/ajmg.a.62579. Epub ahead of print. PMID: 34863015.

Nair AM, Goel R, Hindhumati M, Jayakanthan K, Visalakshi J, Joseph G, Danda S, Danda D. Serum amyloid A as a marker of disease activity and treatment response in Takayasu arteritis. Rheumatol Int. 2017 Oct;37(10):1643-1649. doi: 10.1007/s00296-017-3786-2. Epub 2017 Aug 11. PMID: 28801814.

Yoganathan S, Sudhakar S, Thomas M, Kumar Dutta A, Danda S, Chandran M. Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy. Iran J Child Neurol. 2018 Spring;12(2):107-112. PMID: 29696052; PMCID: PMC5904745. Link

Sandhya P, Danda S, Danda D, Lonarkar S, Luke SS, Sinha S, Joseph G. Tumour necrosis factor (TNF)-α-308 gene polymorphism in Indian patients with Takayasu's arteritis - a pilot study. Indian J Med Res. 2013 Apr;137(4):749-52. PMID: 23703343; PMCID: PMC3724256.

Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015 Feb 17;313(7):695-706. doi: 10.1001/jama.2015.459. PMID: 25688781; PMCID: PMC4962880.

Dalal AB, Ranganath P, Phadke SR, Kabra M, Danda S, Puri RD, Sankar VH, Gupta N, Patil SJ, Mandal K, Tamhankar P, Aggarwal S, Agarwal M. Prenatal diagnosis in India is not limited to sex selection. Genet Med. 2015 Jan;17(1):88. doi: 10.1038/gim.2014.149. PMID: 25356971.

Malik P, Bidkar SU, Yoganathan S, Mathai S, Danda S, Koshy B. Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia. Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):247-248. doi: 10.4103/aian.AIAN_243_20. Epub 2021 Apr 28. PMID: 34220071; PMCID: PMC8232497.

Yoganathan S, Srinivasaraghavan R, Chandran M, Kratz L, Koshy B, Sudhakar SV, Arunachal G, Thomas M, Danda S. Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder. Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):261-264. doi: 10.4103/aian.AIAN_361_20. Epub 2021 Apr 28. PMID: 34220079; PMCID: PMC8232503.

Uttarilli A, Ranganath P, Jain SJ, Prasad CK, Sinha A, Verma IC, Phadke SR, Puri RD, Danda S, Muranjan MN, Jevalikar G, Nagarajaram HA, Dalal AB. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian J Med Res. 2015 Oct;142(4):414-25. doi: 10.4103/0971-5916.169201. PMID: 26609033; PMCID: PMC4683826.

Yoganathan S, Sudhakar SV, Thomas M, Dutta AK, Danda S. "Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN). Brain Dev. 2016 May;38(5):516-9. doi: 10.1016/j.braindev.2015.10.017. Epub 2015 Nov 18. PMID: 26602591.

Tamhankar PM, Vasudevan L, Kondurkar P, Niazi S, Christopher R, Solanki D, Dholakia P, Muranjan M, Kamate M, Kalane U, Sheth J, Tamhankar V, Gulati R, Vasikarla M, Danda S, Naushad SM, Girisha KM, Patil S. Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1. J Pediatr Genet. 2021 Sep;10(3):213-221. doi: 10.1055/s-0040-1715528. Epub 2020 Sep 2. PMID: 34504725; PMCID: PMC8416222.

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16. PMID: 30013181; PMCID: PMC6072555.

Kabeerdoss J, Danda D, Goel R, Mohan H, Danda S, Scofield RH. Genome-Wide DNA Methylation Profiling in CD8 T-Cells and Gamma Delta T-Cells of Asian Indian Patients With Takayasu Arteritis. Front Cell Dev Biol. 2022 Jun 23;10:843413. doi: 10.3389/fcell.2022.843413. PMID: 35813204; PMCID: PMC9259853.

Foster MC, Gaemers SJM, Peterschmitt MJ. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results. Am J Hematol. 2021 Sep 1;96(9):1156-1165. doi: 10.1002/ajh.26276. Epub 2021 Jul 11. PMID: 34161616; PMCID: PMC8457136.

Varkki S, Benjamin AT, Athiyarath R, Danda S, Sowmya R, Connett G. Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families. J Cyst Fibros. 2021 Sep;20(5):e84-e86. doi: 10.1016/j.jcf.2021.03.023. Epub 2021 Apr 18. PMID: 33883099.

Tjandrajana E, Agarwal S, Danda S. Gallstones in a patient with homocystinuria. Indian J Gastroenterol. 2009 Jul-Aug;28(4):157-8. doi: 10.1007/s12664-009-0055-7. PMID: 19937414. Link

Aaron, R., Beck, M.M., Arunachal, G. et al. NLRP7 Mutation in Recurrent Non-familial Molar Pregnancies: A Case Series. Indian J Gynecol Oncolog 20, 55 (2022). https://doi.org/10.1007/s40944-022-00661-w

Danda S, Datar C, Kher A, Deshpande T, Thomas MM, Oommen SP. First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1. Am J Med Genet A. 2022 Aug;188(8):2501-2504. doi: 10.1002/ajmg.a.62844. Epub 2022 May 21. PMID: 35596688.

Barney AM, Danda S, Cherian AG, Aronraj J, Jayaprakash L, Abraham VJ, Christudass CS, Marcus TA. Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with vitamin B12 deficiency and adverse perinatal outcomes among pregnant women of rural South India - a cross sectional longitudinal study. J Perinat Med. 2022 Jul 11;50(9):1230-1238. doi: 10.1515/jpm-2022-0119. PMID: 35822733.

Kotambail A, Selvam P, Muthusamy K, Thomas M, Sudhakar SV, Ghati C, Danda S, Arunachal G. Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event. Eur J Hum Genet. 2023 Jan;31(1):73-80. doi: 10.1038/s41431-022-01198-4. Epub 2022 Oct 7. PMID: 36202930; PMCID: PMC9823096.

Goel R, Kabeerdoss J, Mohan H, Danda S, Jayaseelan V, Kumar TS, Jude J, Bacon P, Joseph G, Danda D. Soluble-HLA-E: A follow up biomarker in Takayasu arteritis, independent of HLA-E genotype. Int J Rheum Dis. 2018 Feb;21(2):532-540. doi: 10.1111/1756-185X.13027. Epub 2017 Apr 19. PMID: 28425192.

Yoganathan S, Sudhakar SV, Arunachal G, Thomas M, Subramanian A, George R, Danda S. Menkes disease and response to copper histidine: An Indian case series Ann Indian Acad Neurol. 2017 Jan-Mar;20(1):62-68. doi: 10.4103/0972-2327.199907. PMID: 28298846; PMCID: PMC5341272.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30. PMID: 27374770; PMCID: PMC5005452.

Yoganathan S, Kumar M, Sushma L, Danda S, Thomas M. An Inherited Cause of Stroke Mimic in a Toddler. Indian J Pediatr. 2021 Sep 1. doi: 10.1007/s12098-021-03904-4. Epub ahead of print. PMID: 34468936.

Mohan S, Danda S, Mathai S, Simon A. Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India. Natl Med J India. 2019 May-Jun;32(3):141-143. doi: 10.4103/0970-258X.278692. PMID: 32129306.

Bharathi NK, Thomas MM, Yoganathan S, Chandran M, Aaron R, Danda S. Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort. Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1104-1108. doi: 10.4103/aian.aian_612_22. Epub 2022 Dec 3. PMID: 36911443; PMCID: PMC9996474.

Joseph A, Cherian KE, Kapoor N, Paul TV. A Bizarre Complication of Levothyroxine Therapy. Indian J Endocrinol Metab. 2021 Mar-Apr;25(2):166-167. doi: 10.4103/ijem.IJEM_87_21. Epub 2021 Sep 8. PMID: 34660246; PMCID: PMC8477745. Link

Sathishkumar D, Muthusamy K, Gupta A, Malhotra M, Thomas M, Koshy B, Jasper A, Danda S, George R. Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India. Clin Exp Dermatol. 2021 Jun;46(4):704-709. doi: 10.1111/ced.14531. Epub 2021 Jan 4. PMID: 33289110.

Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. PMID: 35144014.

Malik P, Yoganathan S, Danda S, Thomas M. Unusual MRI findings in 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Neuropediatrics. 2022 Feb 22. doi: 10.1055/a-1779-4234. Epub ahead of print. PMID: 35193149.

Das S, Thomas M, Yoganathan S, Muthusamy K, Barney AM, A SSC, Dutta AK, A R, Mohan S, Danda S. Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent. Eur J Med Genet. 2023 Jun;66(6):104766. doi: 10.1016/j.ejmg.2023.104766. Epub 2023 Apr 17. PMID: 37075885.

Garg D, Yoganathan S, Shamim U, Mankad K, Gulati P, Bonifati V, Botre A, Kalane U, Saini AG, Sankhyan N, Srivastava K, Gowda VK, Juneja M, Kamate M, Padmanabha H, Panigrahi D, Pachapure S, Udani V, Kumar A, Pandey S, Thomas M, Danda S, Iqbalahmed SA, Subramanian A, Pemde H, Singh V, Faruq M, Sharma S. Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children. Mov Disord Clin Pract. 2022 Aug 12;9(7):886-899. doi: 10.1002/mdc3.13516. PMID: 36247901; PMCID: PMC9547147.

Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Drelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM. Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Mol Dis. 2019 Jul;77:101-102. doi: 10.1016/j.bcmd.2019.04.003. Epub 2019 Apr 9. PMID: 31029022.

Kumar M, Yoganathan S, Todari S, Suresh P, Chandran M, Danda S, Mathew LG, Koshy B, Thomas M. Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations. Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1238-1241. doi: 10.4103/aian.aian_1118_21. Epub 2022 Dec 3. PMID: 36911455; PMCID: PMC9996535.

Malik P, Yoganathan S, Danda S, Thomas M. Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency. Neuropediatrics. 2022 Dec;53(6):445-447. doi: 10.1055/a-1779-4234. Epub 2022 Feb 22. PMID: 35193149.

Chaudhary AK, Mohapatra R, Nagarajaram HA, Ranganath P, Dalal A, Dutta A, Danda S, Girisha KM, Bashyam MD. The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol. 2017 Jan;31(1):e17-e20. doi: 10.1111/jdv.13587. Epub 2016 May 11. PMID: 27168349.

A R, Chandran S, Ghatak AR, Thomas N, Danda S. Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome. Indian J Pediatr. 2022 Nov;89(11):1148-1150. doi: 10.1007/s12098-022-04263-4. Epub 2022 Aug 19. PMID: 35984556.

Joy P, Yoganathan S, Korula S, Abraham SSC, Barney AM, Walter VM, Gibikote S, Danda S. Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy. Am J Med Genet A. 2021 Feb;185(2):596-599. doi: 10.1002/ajmg.a.61961. Epub 2020 Nov 13. PMID: 33185009. Link

Korula S, Yoganathan S, Peter J, Chandran M, Christudass CS, Danda S. Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Treatable Neurometabolic Disorder. Ann Indian Acad Neurol. 2022 Sep-Oct;25(5):983-985. doi: 10.4103/aian.aian_370_22. Epub 2022 Oct 31. PMID: 36561017; PMCID: PMC9764879.

Aleena M. Shajan, Manish Kumar, Preethi Navaneethan, Sumita Danda, Manisha M. Beck and Yang Pan. An Unusual Case of BSND Gene–Related (Type IV) Bartter Syndrome Presenting as Antenatal Bartter Syndrome: A Case Report and Review of Literature. Maternal-Fetal Medicine (2023) 5:2.doi.org/10.1097/FM9.0000000000000182 Link

Pranav Chand R, Vinit W, Vaidya V, Iyer AS, Shelke M, Aggarwal S, Magar S, Danda S, Moirangthem A, Phadke SR, Goyal M, Ranganath P, Mistri M, Shah P, Shah N, Kotecha UH. Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting. Eur J Med Genet. 2023 May;66(5):104730.. doi: 10.1016/j.ejmg.2023.104730. Epub 2023 Feb 15. PMID: 36801247. Link

Yoganathan S, Kumar M, Sharma S, Patel S, Danda S, Thomas M. SGCE Myoclonus-Dystonia: An Inherited Movement Disorder. Neurology. 2022 Feb 15;98(7):289. doi: 10.1212/WNL.0000000000013209. Epub 2021 Dec 14. PMID: 34906973. Link

Danda S, Datar C, Kher A, Deshpande T, Thomas MM, Oommen SP. First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1. Am J Med Genet A. 2022 Aug;188(8):2501-2504. doi: 10.1002/ajmg.a.62844. Epub 2022 May 21. PMID: 35596688.

Joy P, Madhuri V, Palocaren T, Das S, Susan Cleave Abraham S, Korula S, Koshy B, Jose J, Chandran M, Danda S. Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency. Brain Dev. 2022 Oct;44(9):645-649. doi: 10.1016/j.braindev.2022.05.004. Epub 2022 May 28. PMID: 35637059.

Yoganathan S, Arunachal G, Kratz L, Varman M, Thomas M, Sudhakar SV, Oommen SP, Danda S. Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1. Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):259-261. doi: 10.4103/aian.AIAN_360_20. Epub 2021 Apr 28. PMID: 34220078; PMCID: PMC8232515.

Yoganathan S, Kumar M, Sharma S, Patel S, Danda S, Thomas M. SGCE Myoclonus-Dystonia: An Inherited Movement Disorder. Neurology. 2021 Dec 14:10.1212/WNL.0000000000013209. doi: 10.1212/WNL.0000000000013209. Epub ahead of print. PMID: 34906973.

Ganapati A, Arunachal G, Arya S, Shanmugasundaram D, Jeyaseelan L, Kumar S, Danda S, Danda D. Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus. Rheumatol Int. 2019 Dec;39(12):2053-2060. doi: 10.1007/s00296-019-04355-z. Epub 2019 Jul 1. PMID: 31263994.

Yoganathan S, Kumar M, Sushma L, Danda S, Thomas M. An Inherited Cause of Stroke Mimic in a Toddler. Indian J Pediatr. 2022 Jan;89(1):98. doi: 10.1007/s12098-021-03904-4. Epub 2021 Sep 1. PMID: 34468936.

Yoganathan S, Bhasin H, Garg D, Malik P, Saini AG, Chandran M, Korula S, Arunachal G, Danda S, Thomas M, Oommen SP, Sharma S. Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review. Pediatr Neurol. 2023 Sep;146:26-30. doi: 10.1016/j.pediatrneurol.2023.06.003. Epub 2023 Jun 13. PMID: 37413720.

R. Aaron, A. Chapla, M. Kumar, G. Paul, S. Danda, S. Varkki, 657: Importance of screening for splice site and deep intronic variants—Insights from cystic fibrosis genetic testing on patients from the Indian subcontinent, Journal of Cystic Fibrosis, Volume 20, Supplement 2, 2021, Pages S311-S312, ISSN 1569-1993, https://doi.org/10.1016/S1569-1993(21)02080-4. (https://www.sciencedirect.com/science/article/pii/S1569199321020804)

Rekha Aaron, Aaron Chapla, Sumita Danda, Uday Zachariah, Chundamannil E. Eapen, Ashish Goel, Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease – A Preliminary Study, Journal of Clinical and Experimental Hepatology,2021, , ISSN 0973-6883, https://doi.org/10.1016/j.jceh.2021.08.001. (https://www.sciencedirect.com/science/article/pii/S0973688321001845)

Buket Basmanav F, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC. Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol. 2015 Feb;135(2):615-618. doi: 10.1038/jid.2014.406. Epub 2014 Sep 17. PMID: 25229252.

Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18. PMID: 25988854.

Koshy B, Oommen SP, Jasper S, Danda S, Surendrababu NR. Development and dysmorphism in Joubert syndrome--short case series from India. J Trop Pediatr. 2010 Jun;56(3):209-12. doi: 10.1093/tropej/fmp084. Epub 2009 Sep 15. PMID: 19755534. Link

Shajil C, Sathishkumar D, Danda S, Thomas M. An unusual case of keratinopathic icthyosis: a diagnostic conundrum. Dermatol Online J. 2021 Jun 15;27(6). doi: 10.5070/D327654054. PMID: 34387055.

Peter DCV, Smith FJD, Wilson NJ, Danda S. PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease. Indian Dermatol Online J. 2020 Sep 28;12(1):147-149. doi: 10.4103/idoj.IDOJ_218_20. PMID: 33768038; PMCID: PMC7982026.

Abraham SSC, Yoganathan S, Koshy B, Oommen SP, Simon A, Mathai S, Korula S, Mathew L, Sathishkumar D, Jasper A, George R, Danda S. Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent. Eur J Med Genet. 2021 Sep;64(9):104291. doi: 10.1016/j.ejmg.2021.104291. Epub 2021 Jul 22. PMID: 34303877.

Anne George Cherian Vandana Kamath Vivi Srivastava Sumita Danda Spectrum of Chromosomal Abnormalities Detected by Conventional Cytogenetic Analysis Following Invasive Prenatal Testing of Fetuses with Abnormal Ultrasound Scans The Journal of Obstetrics and Gynecology of India March 2022 DOI:10.1007/s13224-022-01626-x

Joy P, Madhuri V, Palocaren T, Das S, Susan Cleave Abraham S, Korula S, Koshy B, Jose J, Chandran M, Danda S. Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency. Brain Dev. 2022 May 27:S0387-7604(22)00085-7. doi: 10.1016/j.braindev.2022.05.004. Epub ahead of print. PMID: 35637059.

Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23. PMID: 26204423; PMCID: PMC4857186.

Joshi SP, Thomas M, Yoganathan S, Danda S, Chandran M, Jasper A. Clinico-Etiological Spectrum and Functional Outcomes of Children with Pre-Status Dystonicus and Status Dystonicus (SD): A Descriptive Study. Ann Indian Acad Neurol. 2023 May-Jun;26(3):268-274. doi: 10.4103/aian.aian_660_22. Epub 2023 Jun 15. PMID: 37538432; PMCID: PMC10394458. Link

Kumaran D, Balagopal K, Tharmaraj RG, Aaron S, George K, Muliyil J, Sivadasan A, Danda S, Alexander M, Hasan G. Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort. BMC Med Genet. 2014 Oct 25;15:114. doi: 10.1186/s12881-014-0114-5. PMID: 25344417; PMCID: PMC4411758. Link

Yoganathan S, Kumar M, Malhotra M, Joy P, Danda S, Thomas M, David KS, Jasper A, Selvin SST. Eye signs in a child with ROBO3 gene mutation. Indian J Ophthalmol. 2022 Jul;70(7):2643-2644. doi: 10.4103/ijo.IJO_2065_21. PMID: 35791185; PMCID: PMC9426051.

Beck MM, Thomas S, Sowmya S, Goel A, Danda S. Successful Outcome of Pregnancy in Niemann-Pick Disease Type B: A Case Report and Review of Literature. J Obstet Gynaecol India. 2022 Dec;72(Suppl 2):399-402. doi: 10.1007/s13224-022-01686-z. Epub 2022 Aug 19. PMID: 36457455; PMCID: PMC9701292.

Yoganathan S, Kumar M, John D, Danda S, Oommen SP, Umakant SB, Thomas M. Oculodigital Sign: A Clinical Clue for Diagnosis. Ann Indian Acad Neurol. 2022 May-Jun;25(3):560-561. doi: 10.4103/aian.aian_755_21. Epub 2022 May 3. PMID: 35936593; PMCID: PMC9350766.

Yoganathan S, Srinivasaraghavan R, Kumar M, Kratz L, Mular S, Sudhakar SV, Malik P, Chandran M, Thomas M, Danda S. Fumaric Aciduria: A Rare Cause of Refractory Epilepsy. Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):738-740. doi: 10.4103/aian.aian_47_22. Epub 2022 Sep 9. PMID: 36211164; PMCID: PMC9540961. Link

Aaron R, Chapla A, Danda S, Zachariah U, Eapen CE, Goel A. Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease - A Preliminary Study. J Clin Exp Hepatol. 2022 Mar-Apr;12(2):711-713. doi: 10.1016/j.jceh.2021.08.001. Epub 2021 Aug 6. PMID: 35535059; PMCID: PMC9077194.

Srinivasaraghavan R, Sharma S, Kratz L, Malik P, Yoganathan S, Danda S, Oommen SP. Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder. Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):933-934. doi: 10.4103/aian.AIAN_231_20. Epub 2021 Dec 17. PMID: 35359529; PMCID: PMC8965948.

Yoganathan S, Srinivasaraghavan R, Chandran M, Kratz L, Koshy B, Sudhakar SV, Arunachal G, Thomas M, Danda S. Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder. Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):261-264. doi: 10.4103/aian.AIAN_361_20. Epub 2021 Apr 28. PMID: 34220079; PMCID: PMC8232503.

Danda S, Mohan S, Devaraj P, Dutta AK, Nampoothiri S, Yesodharan D, Phadke SR, Jalan AB, Thangaraj K, Verma IC, Danda D, Jebaraj I. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. Clin Rheumatol. 2020 Sep;39(9):2743-2749. doi: 10.1007/s10067-020-05020-8. Epub 2020 Mar 24. PMID: 32212000.

Dutta AK, Danda S, Muthusamy K, Alexander M, Sudhakar SV, Hansdak S, Bandyopadhyay R, Bakhya Shree GB, Rekha L. Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. Mol Genet Metab Rep. 2015 Mar 23;3:33-5. doi: 10.1016/j.ymgmr.2015.03.002. PMID: 26937392; PMCID: PMC4750635.

Korula S, Ekbote A, Kumar N, Danda S, Agarwal I, Chaturvedi S. Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature. Clin Kidney J. 2014 Apr;7(2):134-7. doi: 10.1093/ckj/sft162. Epub 2014 Jan 26. PMID: 25852861; PMCID: PMC4377768.

Sandhya P, Danda D, Danda S, Srivastava VM. Juvenile ankylosing spondylitis in Turner syndrome. Natl Med J India. 2013 Nov-Dec;26(6):338-9. PMID: 25073991. Link

Yoganathan S, Arunachal G, Sudhakar SV, Rajaraman V, Thomas M, Danda S. Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification. Neuropediatrics. 2016 Apr;47(2):123-7. doi: 10.1055/s-0035-1571189. Epub 2016 Feb 9. PMID: 26859818.

Ekbote AV, Kamath MS, Danda S. MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder. J Pediatr Genet. 2014 Sep;3(3):167-73. doi: 10.3233/PGE-14096. PMID: 27625874; PMCID: PMC5021002.

Das S, Godbole K, Abraham SSC, Ganesan P, Kamdar P, Danda S. Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood. Am J Med Genet A. 2021 May;185(5):1606-1609. doi: 10.1002/ajmg.a.62118. Epub 2021 Feb 11. PMID: 33569879.

Yoganathan S, Arunachal G, Kratz L, Varman M, Thomas M, Sudhakar SV, Oommen SP, Danda S. Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency. Ann Indian Acad Neurol. 2020 Jan-Feb;23(1):113-117. doi: 10.4103/aian.AIAN_213_18. PMID: 32055132; PMCID: PMC7001443.

Danda D, Goel R, Kabeerdoss J, Sun C, Danda S, Lincy Franklin A, Joseph G, Nath SK. Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort. J Hum Genet. 2024 Jan;69(1):13-18. doi: 10.1038/s10038-023-01198-2. Epub 2023 Oct 17. PMID: 37848720.

Kamdar P, Geetha TS, Palocaren T, Kandagaddala M, Chinniah PK, Murugan S, Vedam R, Danda S. Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia. Clin Genet. 2023 Dec 10. doi: 10.1111/cge.14465. Epub ahead of print. PMID: 38072398.

Danda S, Thomas BM, Paramshivam G, Thomas R, Mathew J, Danda D. Authors' response. Indian J Med Res. 2020 Oct;152(4):430-431. doi: 10.4103/0971-5916.305172. PMID: 33380712; PMCID: PMC8061587.

Shajil C, Sathishkumar D, Kumar S, Danda S. Homozygous CARD14 variant presenting as infantile erythroderma. BMJ Case Rep. 2024 Jan 16;17(1):e254090. doi: 10.1136/bcr-2022-254090. PMID: 38233005; PMCID: PMC10806972.

Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P. KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature. Epilepsia. 2024 Jan 17. doi: 10.1111/epi.17880. Epub ahead of print. PMID: 38231304.

Muthusamy K, Sivadasan A, Dixon L, Sudhakar S, Thomas M, Danda S, Wszolek ZK, Wierenga K, Dhamija R, Gavrilova R. Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions. Front Neurol. 2023 Jul 26;14:1219324. doi: 10.3389/fneur.2023.1219324. PMID: 37564735; PMCID: PMC10410460.

Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. PMID: 37583270; PMCID: PMC10690684.

Ravichandran L, Paul S, A R, Hs A, Mathai S, Simon A, Danda S, Thomas N, Chapla A. High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia. Endocrine. 2024 Mar 5. doi: 10.1007/s12020-024-03747-x. Epub ahead of print. PMID: 38441846. Link

Selina, Agnes et al. “SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.” Bone reports vol. 18 101690. 26 May. 2023, doi:10.1016/j.bonr.2023.101690

Kumar M, Aaron R, Varkki SD, Danda S, Ranganathan S, Paul GR. A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France. Pediatr Pulmonol. 2024 Mar 19. doi: 10.1002/ppul.26965. Epub ahead of print. PMID: 38501349.

Ilangovan H, Elangovan J, Danda S, Beck MM, Navaneethan P, Athiyarath R. Exploring the clinical utility of exome sequencing/mono, duo, trio in prenatal testing: a retrospective study in a tertiary care centre in south India. J Perinat Med. 2024 May 7. doi: 10.1515/jpm-2023-0485. Epub ahead of print. PMID: 38709224.

Kabeerdoss J, Danda S, Srivastava P, Kerkhale R, Kumar TS, Goel R, Danda D. A pilot study of childhood-onset Takayasu arteritis using whole exome sequencing suggests oligogenic inheritance involving classical complement, collagen, and autoinflammatory pathways. Clin Rheumatol. 2024 Aug;43(8):2607-2613. doi: 10.1007/s10067-024-07017-z. Epub 2024 Jun 13. PMID: 38869681. Link