Article

Dhanya Lakshmi, N. and Ranganath, P. and Aggarwal , Shagun and Dalal, Ashwin and Phadke, S.R. and Mandal, K. (2019) Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children. Indian Pediatrics, 56 (12). pp. 1017-1019. ISSN 0019-6061

Dhanya Lakshmi, N. and Ranganath, P. and Balakrishnan, S. and Dalal, Ashwin (2019) Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype. Clinical Dysmorphology, 28 (4). pp. 202-204. ISSN 0962-8827

Bhattacherjee, Amrita and Ranganath, P. and Divya, Pasumarthi and Dalal, Ashwin (2019) Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops. Gene Reports, 16. p. 100437. ISSN 2452-0144

Karthik, T. and Ranganath, P. and Ramachandran, A. and Uppin, M.S. and Sreeja, P. and Aggarwal, Shagun and Lakshmi, D. and Meena, A.K. and Dalal, Ashwin (2019) Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatrics, 56 (7). pp. 556-559. ISSN 0019-6061

Dhanya Lakshmi, N. and Matta, D. and Gupta, N. and Kabra, M. and Ranganath, P. and Aggarwal, Shagun and Phadke, S.R. and Datar, C. and Gowrishankar, K. and Kamate, M. and Jain, J.M.N. and Dalal, Ashwin (2019) Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy. Journal of Human Genetics, 64 (4). pp. 323-331. ISSN 1434-5161

Nerakh, Gayatri and Ranganath, P. (2019) Alström Syndrome Presenting as Isolated Dilated Cardiomyopathy. The Indian Journal of Pediatrics, 86 (3). pp. 296-298. ISSN 0019-5456

Sheth, J. and Bhavsar, R. and Mistri, M. and Pancholi, D. and Bavdekar, A. and Dalal, Ashwin and Ranganath, P. and Girisha, K.M. and Shukla, A. and Phadke, S.R. and Puri, R. and Panigrahi, I. and Kaur, A. and Muranjan, M. and Goyal, M. and Radha Ramadevi, A. and Shah, R. and Nampoothiri, S. and Danda, S. and Datar, C. and Kapoor, S. and Bhatwadekar, S. and Sheth, F. (2019) Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Medical Genetics, 20 (1). p. 31. ISSN 1471-2350

Jagadisan, B. and Ranganath, P. (2017) Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene. Indian Pediatrics, 54 (9). pp. 775-776. ISSN 0019-6061

Dutta, Usha and Bahal, Ashish and Vineeth, V.S. and Vasantha, S. and Ranganath, P. and Dalal, Ashwin (2017) A novel mosaic complex supernumerary marker chromosome in a girl with seizures: Systematic characterization of the complex marker. Gene Reports, 8. pp. 128-133. ISSN 2452-0144

Karthik, T. and Ranganath, P. and Dalal, Ashwin (2017) Variable expressivity and response to bisphosphonate therapy in a family with osteoporosis pseudoglioma syndrome. Indian Pediatrics, 54 (8). pp. 681-683. ISSN 0019-6061

Uttarilli, Anusha and Divya, Pasumarthi and Ranganath, P. and Dalal, Ashwin (2017) Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Gene, 599. pp. 19-27. ISSN 0378-1119

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

Uttarilli, Anusha and Ranganath, P. and Matta, D. and Jain, J.M.N. and Krishnaprasad, C. and Sobhan Babu, A. and Girisha, K.M. and Verma, I.C. and Phadke, S.R. and Mandal, K. and Puri, R.D. and Aggarwal, Shagun and Danda, S. and Sankar, V.H. and Kapoor, S. and Bhat, M. and Gowrishankar, K. and Hasan, A.Q. and Nair, M. and Nampoothiri, S. and Dalal, Ashwin (2016) Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II. Clinical Genetics, 90 (6). pp. 496-508. ISSN 0009-9163

Ranganath, P. and Matta, D. and Bhavani, G.S. and Wangnekar, S. and Jain, J.M.N. and Verma, I.C. and Kabra, M. and Puri, R.D. and Danda, S. and Gupta, N. and Girisha, K.M. and Sankar, V.H. and Patil, S.J. and Radha Rama Devi, A. and Bhat, M. and Gowrishankar, K. and Mandal, K. and Aggarwal, Shagun and Tamhankar, P.M. and Tilak, P. and Phadke, S.R. and Dalal, Ashwin (2016) Spectrum of SMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics Part A, 170 (10). pp. 2719-2730. ISSN 1552-4825

Bhavani, G.S. and Shah, H. and Shukla, A. and Gupta, N. and Gowrishankar, K. and Rao, A.P. and Kabra, M. and Agarwal, M. and Ranganath, P. and Ekbote, A.V. and Phadke, S.R. and Kamath, A. and Dalal, Ashwin and Girisha, K.M. (2016) Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy. American Journal of Medical Genetics Part A, 170 (2). pp. 410-417. ISSN 1552-4825

Ranganath, P. (2015) MicroRNA-155 and its role in malignant hematopoiesis. Biomarker Insights, 10. pp. 95-102. ISSN 1177-2719

Bhavani, G.S. and Shah, H. and Dalal, Ashwin and Shukla, A. and Danda, S. and Aggarwal, Shagun and Phadke, S.R. and Gupta, N. and Kabra, M. and Gowrishankar, K. and Gupta, A. and Bhat, M. and Puri, R.D. and Bijarnia-Mahay, S. and Nampoothiri, S. and Mohanasundaram, K.M. and Rajeswari, S. and Kulkarni, A.M. and Kulkarni, M.L. and Ranganath, P. and Radha Rama Devi, A. and Hariharan, S.V. and Girisha, K.M. (2015) Novel and recurrent mutations inWISP3and an atypical phenotype. American Journal of Medical Genetics Part A, 167 (10). pp. 2481-2484. ISSN 1552-4825

Uttarilli, Anusha and Ranganath, P. and Jain, S.J.M.N. and Krishnaprasad, C. and Sinha, A. and Verma, I.C. and Phadke, S.R. and Puri, R.D. and Danda, S. and Muranjan, M. and Jevalikar, G. and Nagarajaram, H.A. and Dalal, Ashwin (2015) Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI. Indian Journal of Medical Research, 142 (4). pp. 414-425. ISSN 0971-5916

Bidchol, A.M. and Dalal, Ashwin and Trivedi, R. and Shukla, A. and Nampoothiri, S. and Sankar, V.H. and Danda, S. and Gupta, N. and Kabra, M. and Hebbar, S.A. and Bhat, R.Y. and Matta, D. and Ekbote, A.V. and Puri, R.D. and Phadke, S.R. and Gowrishankar, K. and Aggarwal, Shagun and Ranganath, P. and Sharda, S. and Kamate, M. and Datar, C.A. and Bhat, K. and Kamath, N. and Shah, H. and Krishna, S. and Gopinath, P.M. and Verma, I.C. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2015) Recurrent and novel GLB1 mutations in India. Gene, 567 (2). pp. 173-181. ISSN 0378-1119

Maheshwar, L. and Vijaykrishna, C. and Ranganath, P. and Arora, A.J. and Vanaja, M.C. (2015) Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review. Journal of Clinical and Diagnostic Research, 9 (8). RD01-RD03. ISSN 2249-782X

Dalal, Ashwin and Ranganath, P. and Phadke, S.R. and Kabra, M. and Danda, S. and Puri, R.D. and Sankar, V.H. and Gupta, N. and Patil, S.J. and Mandal, K. and Tamhankar, P.M. and Aggarwal, Shagun and Agarwal, Meenal (2015) Prenatal diagnosis in India is not limited to sex selection. Genetics in Medicine, 17 (1). p. 88. ISSN 1098-3600

Bidchol, A.M. and Dalal, Ashwin and Shah, H. and Suryanarayana, S. and Nampoothiri, S. and Kabra, M. and Gupta, N. and Danda, S. and Gowrishankar, K. and Phadke, S.R. and Kapoor, S. and Kamate, M. and Verma, I.C. and Puri, R.D. and Sankar, V.H. and Radha Rama Devi, A. and Patil, S.J. and Ranganath, P. and Jain, S.J.M.N. and Agarwal, Meenal and Singh, Ankur and Mishra, P. and Tamhankar, P.M. and Gopinath, P.M. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part A, 164A (11). pp. 2793-2801. ISSN 1552-4833

Nandagopalan, R.S. and Phadke, S.R. and Dalal, Ashwin and Ranganath, P. (2014) Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome. Indian Journal of Medical Research, 140 (2). pp. 221-226. ISSN 0971-5916

Dutta, Usha and Vempally, S. and Ranganath, P. and Dalal, Ashwin (2014) A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: molecular characterization of the marker. Gene, 539 (1). pp. 162-7. ISSN 1879-0038

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

Ranganath, P. and Dalal, Ashwin (2013) Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum. Clinical Dysmorphology, 22 (2). pp. 73-75. ISSN 0962-8827

Verma, P.K. and Ranganath, P. and Dalal, Ashwin and Phadke, S.R. (2012) Spectrum of lysosomal storage disorders at a medical genetics center in Northern India. Indian Pediatrics, 49 (10). pp. 799-804. ISSN 0019-6061

Rajitha, Ponnala and Ranganath, P. and Dutta, Usha and Pidugu, V.K. and Dalal, Ashwin (2012) Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature. Cytogenetic and Genome Research, 136 (3). pp. 229-234. ISSN 1424-8581

Ranganath, P. and Pradhan, M. (2012) Complete Pentalogy of Cantrell with craniorachischisis: a case report. Journal of Prenatal Medicine, 6 (1). pp. 10-2. ISSN 1971-3290