2019
  • Maheshwari A, Khadilkar V, Gangodkar P, Khadilkar A. Long-term Growth in Congenital Adrenal Hyperplasia. Indian J Pediatr. 2019 Feb;86(2):154-158. doi:10.1007/s12098-018-2753-6. Epub 2018 Aug 10. PubMed PMID: 30097840
  • Cyriac Abby Philips, Meenal Agarwal, Nikhil Phadke, Philip Augustine. A Novel Phosphoinositide-3-Kinase (PI3K) Adaptor Protein 1 Gene Missense Mutation in Familial Cirrhosis. February 2019 Journal of Clinical and Experimental Hepatology DOI: 10.1016/j.jceh.2019.02.002
  • Dayal D, Agarwal M. A Novel CYP21A2 Gene Mutation in Classic Congenital Adrenal Hyperplasia. Indian Pediatr. 2019 Jan 15;56(1):76. PubMed PMID: 30806372.
  • Philips CA, Augustine P, Phadke N. Healthy Donor Fecal Microbiota Transplantation for Recurrent Bacterial Cholangitis in Primary Sclerosing Cholangitis - A Single Case Report. J Clin Transl Hepatol. 2018 Dec 28;6(4):438-441. doi: 10.14218/JCTH.2018.00033. Epub 2018 Aug 1. PubMed PMID: 30637223; PubMed Central PMCID: PMC6328734.
  • Lohiya N, Lote-Oke R, Agarwal M, Phadke N, Khadilkar V, Khadilkar A. Genetic Analysis and Clinical Presentation in Silver Russell Syndrome. Indian J Pediatr.  2018 Dec;85(12):1141-1142. doi: 10.1007/s12098-018-2738-5. Epub 2018 Jul 23. PubMed PMID: 30039337
  • Ayyavoo A, Raghupathy P, Agarwal M, Hofman P. Severe Familial Hypertriglyceridemia: Successful Treatment With Insulin and a Modified Meal Plan. J Endocr Soc. 2018 Nov 1;2(12):1357-1362. doi: 10.1210/js.2018-00299. eCollection 2018 Dec 1. PubMed PMID: 30519673; PubMed Central PMCID: PMC6270957.
  • Gangodkar P, Ranade S, Anand S, Bapat A, Khatod K, Shah P, Agarwal M, Phadke N. Use of two complementary new molecular techniques, next-generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report. Haemophilia. 2018 Nov;24(6):e425-e427. doi: 10.1111/hae.13613. Epub 2018 Oct 9. PubMed PMID: 30299569
  • Philips CA, Phadke N, Ganesan K, Ranade S, Augustine P. Corticosteroids, nutrition, pentoxifylline, or fecal microbiota transplantation for severe alcoholic hepatitis. Indian J Gastroenterol. 2018 May;37(3):215-225. Doi: 10.1007/s12664-018-0859-4. Epub 2018 Jun 21. PubMed PMID: 29931479
  • Philips CA, Phadke N, Ganesan K, Augustine P. Healthy donor faecal transplant for corticosteroid non-responsive severe alcoholic hepatitis. BMJ Case Rep. 2017 Nov 8;2017. pii: bcr-2017-222310. doi: 10.1136/bcr-2017-222310. PubMed PMID: 29122905.
  • Khadilkar V, Phadke N, Khatod K, Ekbote V, Gupte SP, Nadar R, Khadilkar A. Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy. J Pediatr Endocrinol Metab. 2017 May 24;30(6):669-675. doi: 10.1515/jpem-2016-0382. PubMed PMID: 28525353.
  • Parthasarthy LS, Phadke N, Chiplonkar S, Khadilkar A, Khatod K, Ekbote V, Shah S, Khadilkar V. Association of Fat Mass and Obesity-associated Gene Variant with Lifestyle Factors and Body Fat in Indian Children. Indian J Endocrinol Metab. 2017 Mar-Apr;21(2):297-301. doi: 10.4103/ijem.IJEM_372_16. PubMed PMID: 28459029; PubMed Central PMCID: PMC5367234.
  • Yaren O, Alto BW, Gangodkar PV, Ranade SR, Patil KN, Bradley KM, Yang Z, Phadke N, Benner SA. Point of sampling detection of Zika virus within a multiplexed kit capable of detecting dengue and chikungunya. BMC Infect Dis. 2017 Apr 20;17(1):293. doi: 10.1186/s12879-017-2382-0. PubMed PMID: 28427352; PubMed Central PMCID: PMC5399334.

Ramanan V, Kelkar K, Ranade S, Gangodkar P, Gogate N, Patil K, Ragte-Wathare T, Agarwal M, Phadke ND. The clinical utility of a custom developed targeted next-generation sequencing assay for detection of mutations associated with Philadelphia-negative chronic myeloproliferative neoplasms: Two case examples with CALR exon 9 mutations. Int J Mol ImmunoOncol 2016;1:28-34.

Sanwalka N, Khadilkar A, Chiplonkar S, Khatod K, Phadke N, Khadilkar V. Influence of Vitamin D Receptor Gene Fok1 Polymorphism on Bone Mass Accrual Post Calcium and Vitamin D Supplementation. Indian J Pediatr. 2015 Nov;82(11):985-90. doi: 10.1007/s12098-015-1783-6. Epub 2015 May 15. PubMed PMID: 25972288.

Nadar R, Phadke N, Khatod K, Khadilkar V, Khadilkar AV. Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):869-72. Doi: 10.1515/jpem-2013-0416. PubMed PMID: 24854532.

  • Nadar R, Khatod K, Phadke N, Datar C, Vaidya S, Khadilkar A, Khadilkar V. Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling. Indian J Hum Genet. 2013 Oct;19(4):475-8. doi: 10.4103/0971-6866.124380. PubMed PMID: 24497717; PubMed Central PMCID: PMC3897147.
  • Phadke ND, Khatod KA, Nadar R, Khadilkar VV, Khadilkar AV. Detection of carrier status and mutations in family members of a child with complete deletion of the DAX1 gene using multiplex ligation-dependent probe amplification. Indian J Pediatr. 2013 Aug;80(8):704-5. doi: 10.1007/s12098-013-1072-1. Epub 2013 May 29. PubMed PMID: 23715793.
  • Khadilkar VV, Mangtani HR, Jahagirdar RR, Khatod KA, Phadke ND, Deepa PS, Khadilkar AV. Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita. Indian J Pediatr. 2013 Aug;80(8):631-5. Doi: 10.1007/s12098-012-0946-y. Epub 2012 Dec 22. PubMed PMID: 23263975.
  • Sanwalka N, Khadilkar A, Chiplonkar S, Khatod K, Phadke N, Khadilkar V. Vitamin D receptor gene polymorphisms and bone mass indices in post-menarchal Indian adolescent girls. J Bone Miner Metab. 2013 Jan;31(1):108-15. Doi: 10.1007/s00774-012-0390-0. Epub 2012 Oct 19. PubMed PMID: 23081732.