Chapla A, Mruthyunjaya MD, Asha HS, Varghese D, Varshney M, Vasan SK, Venkatesan P, Nair V, Mathai S, Paul TV, Thomas N. Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing. Clin Endocrinol (Oxf). 2015 Apr;82(4):533-42. doi: 10.1111/cen.12541. Epub 2014 Aug 7. PMID: 25041077.

Athiyarath R, Shaktivel K, Abraham V, Singh D, Bondu JD, Chapla A, George B, Srivastava A, Edison ES. Association of genetic variants with response to iron supplements in pregnancy. Genes Nutr. 2015 Jul;10(4):474. doi: 10.1007/s12263-015-0474-2. Epub 2015 May 30. PMID: 26024779; PMCID: PMC4449341.

Chapla A, Jayandharan GR, Sumitha E, Sankari Devi G, Shenbagapriya P, Nair SC, Viswabandya A, George B, Mathews V, Srivastava A. Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation. Thromb Haemost. 2011 Jun;105(6):1120-3. doi: 10.1160/TH10-11-0767. Epub 2011 Apr 20. PMID: 21647534.

Kapoor N, Chapla A, Furler J, Paul TV, Harrap S, Oldenburg B, Thomas N. Genetics of obesity in consanguineous populations - A road map to provide novel insights in the molecular basis and management of obesity. EBioMedicine. 2019 Feb;40:33-34. doi: 10.1016/j.ebiom.2019.01.004. Epub 2019 Jan 10. PMID: 30638866; PMCID: PMC6412867.

Doddabelavangala Mruthyunjaya M, Chapla A, Hesarghatta Shyamasunder A, Varghese D, Varshney M, Paul J, Inbakumari M, Christina F, Varghese RT, Kuruvilla KA, V Paul T, Jose R, Regi A, Lionel J, Jeyaseelan L, Mathew J, Thomas N. Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India. PLoS One. 2017 Jan 17;12(1):e0168656. doi: 10.1371/journal.pone.0168656. PMID: 28095440; PMCID: PMC5240948.

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR. Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review. J Pediatr Endocrinol Metab. 2021 Sep 7. doi: 10.1515/jpem-2021-0403. Epub ahead of print. PMID: 34492747.

Chapla A, Mruthyunjaya MD, Asha HS, Varghese D, Varshney M, Vasan SK, Venkatesan P, Nair V, Mathai S, Paul TV, Thomas N. Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing. Clin Endocrinol (Oxf). 2015 Apr;82(4):533-42. doi: 10.1111/cen.12541. Epub 2014 Aug 7. PMID: 25041077.

Athiyarath R, Shaktivel K, Abraham V, Singh D, Bondu JD, Chapla A, George B, Srivastava A, Edison ES. Association of genetic variants with response to iron supplements in pregnancy. Genes Nutr. 2015 Jul;10(4):474. doi: 10.1007/s12263-015-0474-2. Epub 2015 May 30. PMID: 26024779; PMCID: PMC4449341.

Chapla A, Jayandharan GR, Sumitha E, Sankari Devi G, Shenbagapriya P, Nair SC, Viswabandya A, George B, Mathews V, Srivastava A. Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation. Thromb Haemost. 2011 Jun;105(6):1120-3. doi: 10.1160/TH10-11-0767. Epub 2011 Apr 20. PMID: 21647534.

Kapoor N, Chapla A, Furler J, Paul TV, Harrap S, Oldenburg B, Thomas N. Genetics of obesity in consanguineous populations - A road map to provide novel insights in the molecular basis and management of obesity. EBioMedicine. 2019 Feb;40:33-34. doi: 10.1016/j.ebiom.2019.01.004. Epub 2019 Jan 10. PMID: 30638866; PMCID: PMC6412867.

Doddabelavangala Mruthyunjaya M, Chapla A, Hesarghatta Shyamasunder A, Varghese D, Varshney M, Paul J, Inbakumari M, Christina F, Varghese RT, Kuruvilla KA, V Paul T, Jose R, Regi A, Lionel J, Jeyaseelan L, Mathew J, Thomas N. Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India. PLoS One. 2017 Jan 17;12(1):e0168656. doi: 10.1371/journal.pone.0168656. PMID: 28095440; PMCID: PMC5240948.

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR. Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review. J Pediatr Endocrinol Metab. 2021 Sep 7. doi: 10.1515/jpem-2021-0403. Epub ahead of print. PMID: 34492747.

Goel A, Raghupathy V, Amirtharaj GJ, Chapla A, Venkatraman A, Ramakrishna B, Ramachandran A, Thomas N, Balasubramanian KA, Mackie I, Elias E, Eapen CE. ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension. Indian J Gastroenterol. 2017 Sep;36(5):380-389. doi: 10.1007/s12664-017-0786-9. Epub 2017 Oct 5. PMID: 28980147.

Ravichandran L, Korula S, Asha HS, Varghese D, Parthiban R, Johnson J, Ishwarya J, Shetty S, Cherian KE, Jebasingh F, Kapoor N, Pachat D, Mathai S, Simon A, Rajaratnam S, Paul TV, Thomas N, Chapla A. Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India. Eur J Med Genet. 2021 Dec;64(12):104369. doi: 10.1016/j.ejmg.2021.104369. Epub 2021 Oct 27. PMID: 34718183.

Agarwal K, Chapla A, Chandramohan A, Singh CJ, Thomas N, Jebasingh FK. Diabetes Mellitus With Renal and Müllerian Anomalies. AACE Clin Case Rep. 2021 Jul 6;8(1):22-24. doi: 10.1016/j.aace.2021.06.012. PMID: 35097197; PMCID: PMC8784722.

Chapla A, Johnson J, Korula S, Mohan N, Ahmed A, Varghese D, Rangasamy P, Ravichandran L, Jebasingh F, Kumar Agrawal K, Somasundaram N, Hesarghatta Shyamasunder A, Mathai S, Simon A, Jha S, Chowdry S, Venkatesan R, Raghupathy P, Thomas N. WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India. J Clin Endocrinol Metab. 2022 Apr 19;107(5):1328-1336. doi: 10.1210/clinem/dgac002. PMID: 35018440.

Agarwal K, Chapla A, Chandramohan A, Singh CJ, Thomas N, Jebasingh FK. Diabetes Mellitus With Renal and Müllerian Anomalies. AACE Clin Case Rep. 2021 Jul 6;8(1):22-24. doi: 10.1016/j.aace.2021.06.012. PMID: 35097197; PMCID: PMC8784722.

Korula S, Ravichandran L, Paul PG, Johnson J, Chapla A, Santhanam S, Simon A, Mathai S. Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India. Indian J Endocrinol Metab. 2022 Jan-Feb;26(1):79-86. doi: 10.4103/ijem.ijem_429_21. Epub 2022 Apr 27. PMID: 35662751; PMCID: PMC9162257.

Korula S, Ravichandran L, Paul PG, Johnson J, Chapla A, Santhanam S, Simon A, Mathai S. Genetic Heterogeneity and Challenges in the Management of Permanent Neonatal Diabetes Mellitus: A Single-Centre Study from South India. Indian J Endocrinol Metab. 2022 Jan-Feb;26(1):79-86. doi: 10.4103/ijem.ijem_429_21. Epub 2022 Apr 27. PMID: 35662751; PMCID: PMC9162257.

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)

George R, Santhanam S, Samuel R, Chapla A, Hilmarsen HT, Braathen GJ, Reinholt FP, Jahnsen F, Khnykin D. Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India. Clin Case Rep. 2015 Dec 1;4(1):87-9. doi: 10.1002/ccr3.462. PMID: 26783444; PMCID: PMC4706401.

Ravichandran L, Varghese D, R P, S AH, Korula S, Thomas N, Chapla A. Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia. MethodsX. 2022 May 31;9:101748. doi: 10.1016/j.mex.2022.101748. PMID: 35756349; PMCID: PMC9213767.

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.

Aaron R, Premkumar K, Chapla A, Vijayalekshmi B, Zachariah U, Elias E, Kodiatte TA, Daniel D, Jude J, Balasubramanian KA, Nair SC, Thomas N, Ramakrishna B, Eapen CE, Goel A. Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India. Indian J Gastroenterol. 2023 Oct 5. doi: 10.1007/s12664-023-01454-5. Epub ahead of print. PMID: 37796423.

Rashmi K G, Lavanya Ravichandran, Ayan Roy, Dukhabandhu Naik, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Aaron Chapla, Nihal Thomas Clinical Features of Unrecognized Congenital Adrenal Hyperplasia due to 17α-hydroxylase Deficiency Since Adolescence J ASEAN Feder Endocrine Soc Nov 2023: v.38(2) doi.org/10.15605/jafes.038.02.08

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.

Mathew, Sumith K et al. “Genetic predisposition and high exposure to colistin in the early treatment period as independent risk factors for colistin-induced nephrotoxicity.” Clinical and translational science vol. 17,3 (2024): e13764. doi:10.1111/cts.13764

Godfred AC, Thomas Z, Peter D, Joseph A, Ravichandran L, George AA, Pulimood SA, Gaikwad P, Babu R, Thomas M, Thomas N, Chapla A. A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India. Am J Dermatopathol. 2024 Apr 4. doi: 10.1097/DAD.0000000000002657. Epub ahead of print. PMID: 38574087.

John R, Chapla A, Chacko G, Yoganathan S, Thomas MM, Thomas N. Response to Letter to the Editor from Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy". JCEM Case Rep. 2025 Jul 1;3(8):luaf128. doi: 10.1210/jcemcr/luaf128. PMID: 40599483; PMCID: PMC12210230.