Publications by Centre's Scientists (April 2015- March 2016)

1. Ragunatha S, Ramesh M, Anupama P, Kapoor M, Bhat M. Papillon-Lefvre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis. Pediatr Dermatol. 2015. 32(2):292-4.

2. 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. 167A(10):2481-4

3. Meenakshi Bhat. Perspectives: Social and cultural issues in genetic counselling, Journal of Biosciences. 2015. 40(2): 217-220

4. Dwarakanathan A, Bhat M, GN Sanjeeva, Shetty S. Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. Clinical Dysmorphology. 2015. 24(4):159-62

5. Juby Mathew, Sujatha M Jagadeesh, Meenakshi Bhat, Udhaya Kumar, Sarvanamuthu Thiyagarajan and Sudha Srinivasan. Mutations in ARSB in MPSVI patients in India. Mol Genet Metab Rep. 2015. 17;4:53-61

6. Aswini S, Ambika S, Pooja KS, Anuradha D, Kadandale JS, Chandra R. Samuel. Split hand/foot malformation associated with 7q21.3 microdeletion - A case report. Mol Syndromol. 2015. 6:287-296

7. Mitesh Shetty, Ambika Srikanth, Jayarama Kadandale and Sridevi Hegde. Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum, Mol Syndromol. 2015. 6(4): 187-192

8. Shetty M, Kadandale J and Hegde S. Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia, Mol Syndromol. 2015. 6:248-253

9. Sanyal Debarshi and Kadandale Jayarama S. Clinical and haematological evidence of a rare case of polycythemiavera by conventional cytogenetics. Journal of Rare Disorders. 2015. 3 (2): 38-41

10. Pandey N, Dennis J, Chatterjee A, Mani RS, Tharakan A, Rajashekhar B, Anand A. Functional analysis of a novel Connexin30 mutation in a large family with sensorineural hearing loss, pes planus, ichthyosis, cutaneous nodules and keratoderma. Annals of Human Genetics. 2016. 80:11-9

11. Vidyanand Nanjundiah. Cellular slime mold development as a Paradigm for the transition from unicellular to multicellular life. Book chapter in Multicellularity: Origins and Evolution. 2016: 105-128.

12. David Vogel, Stamatios C. Nicolis, Alfonso Perez-Escudero, Vidyanand Nanjundiah, David J. T. Sumpter and Audrey Dussutour. Phenotypic variability in unicellular organisms: from calcium signalling to social behaviour. Proceedings of the Royal Society. 2015

13. Vidyanand Nanjundiah. Introduction to Obaid Siddiqi Memoirs. Indian National Science Academy, New Delhi. 2016

14. Vidyanand Nanjundiah. Foreword to 'Biochemical Evolution: The pursuit of Perfection' by A. Cornish Bowden. 2nd Edition, Garland Science 2016.

15. Veena Rao and Vidyanand Nanjundiah. Ernst Mayr's interaction with J.B.S. Haldane. History and Philosophy of Life Sciences. In press

16. Pandey N, Sharma M, Rashid T, Jalvi R, Andrabi R, Rangasayee R, Anand A. Mutations in OTOF, CLDN14 and SLC26A4 are a major cause of hearing impairment in Dhadkai village, Jammu and Kashmir, India. Indian Journal of Medical Research. In press

17. Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad C K, Babu A S, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, H SV, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clin Genet. In Press

18. R Lakshmi PS, Anupama D, Bhat M, Jayarama SK, Harshal KL. Goldenhar syndrome. Int J Anat Res. In Press

19. Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JM, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A. Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. Am J Med Genet A. In Press

20. Kantheti P, Kubba A, Prabhu A, Batrani M and Hiramagalore R. Two novel mutations in KIND1 in Indian pateints with Kindler syndrome. Clin. Exp. Dermatol. In Press