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Chaudhary, A.K. and Mohapatra, R. and Nagarajaram, H.A. and Ranganath, P. and Dalal, Ashwin and Dutta, A. and Danda, S. and Girisha, K.M. and Bashyam, M.D. (2017) The novelEDARp.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology, 31 (1). e17-e20. ISSN 0926-9959

Chaudhary, A.K. and Sankar, V.H. and Bashyam, M.D. (2016) A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia. Journal of Dermatological Science, 84 (1). pp. 105-107. ISSN 0923-1811

Chaudhary, A.K. and Girisha, K.M. and Bashyam, M.D. (2016) A novel EDARADD5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. American Journal of Medical Genetics Part A, 170 (6). pp. 1639-1641. ISSN 1552-4825

Bashyam, M.D. and Kotapalli, V. and Raman, R. and Chaudhary, A.K. and Yadav, B.K. and Gowrishankar, S. and Uppin, S.G. and Kongara, R. and Sastry, R.A. and Mohana Vamsy, C. and Patnaik, S. and Rao, S. and Dsouza, S. and Desai, D.C. and Tester, A. (2015) Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. Molecular Carcinogenesis, 54 (12). pp. 1807-1814. ISSN 0899-1987

Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Reddy, V. and Nagarajaram, H.A. and Dalal, Ashwin and Bashyam, L. and Sun, D. and Gupta, A. and Gupta, N. and Kabra, M. and Puri, R.D. and Radha Rama Devi, A. and Kapoor, S. and Danda, S. (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clinical Genetics, 86 (6). pp. 530-538. ISSN 1399-0004

Bashyam, M.D. and Viswakalyan, K. and Raman, R. and Yadav, B.K. and Chaudhary, A.K. and Gowrishankar, S. and Uppin, S.G. and Kongara, R. and Sastry, R.A. and Mohana Vamsy, C. and Patnaik, S. and Dsouza, S. and Desai, D.C. and Ashavaid, T. (2014) Identification of MMR gene exonic rearrangements in suspected Lynch syndrome tumors without loss of MMR expression. Cancer Research, 74 (19 Sup). p. 1285. ISSN 0008-5472

Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Ranganath, P. and Dalal, Ashwin and Bashyam, L. and Gupta, N. and Kabra, M. and Muranjan, M. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Kadandale, J.S. (2014) Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. Journal of Cellular Biochemistry, 115 (3). pp. 566-74. ISSN 1097-4644

Bashyam, M.D. and Chaudhary, A.K. and Sinha, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Reddy, E.C. and Dalal, Ashwin (2012) Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. Journal of Cellular Biochemistry, 113 (10). pp. 3122-3132. ISSN 0730-2312

Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Reddy, V. and Acharya, V. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Dalal, Ashwin and Gupta, N. and Kabra, M. and Agarwal, Meenal and Phadke, S.R. and Tainwala, R. and Kumar, R. and Hariharan, S.V. (2012) A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. British Journal of Dermatology, 166 (4). pp. 819-829. ISSN 0007-0963

Bashyam, M.D. and Purushotham, G. and Chaudhary, A.K. and Rao, K.M. and Acharya, V. and Mohammad, T.A.S. and Nagarajaram, H.A. and Hariram, V. and Narasimhan, C. (2012) A low prevalence of MYH7/MYBPC3 mutations among Familial Hypertrophic Cardiomyopathy patients in India. Molecular and Cellular Biochemistry, 360 (1-2). pp. 373-382. ISSN 0300-8177

Bashyam, M.D. and Chaudhary, A.K. and Bhat, V. (2012) The IVS-II-837 (T>G) Appears to be a Relatively Common 'Rare' β-Globin Gene Mutation in β-Thalassemia Patients in Karnataka State, South India. Hemoglobin, 36 (5). pp. 497-503. ISSN 0363-0269

Angalena, R. and Prabitha, K.N. and Chaudhary, A.K. and Bashyam, M.D. and Jain, S. and Dalal, Ashwin (2010) A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major. International Journal of Laboratory Hematology, 32 (5). pp. 548-549. ISSN 1751-5521

Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Radha Rama Devi, A. and Savithri, G.R. and Ratheesh, R. and Bashyam, L. and Mahesh, E. and Sen, D. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Vaidyanathan, S. and Chandrashekar, M.D. and Prameela, K. (2010) Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA. Molecular Genetics and Metabolism, 100 (1). pp. 96-99. ISSN 1096-7192