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Number of items: 29.

Article

Nampoothiri, S. and Yesodharan, D. and Bhattacherjee, Amrita and Ahamed, H. and Puri, R.D. and Gupta, N. and Kabra, M. and Ranganath, Prajnya and Bhat, M. and Phadke, S.R. and Radha Rama Devi, A. and Jagadeesh, S. and Danda, S. and Sylaja, P.N. and Mandal, K. and Bijarnia‐Mahay, S. and Makkar, R. and Verma, I.C. and Dalal, Ashwin and Ramaswami, U. (2020) Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Reports, 56 (1). pp. 82-94. ISSN 2192-8312

Divya, Pasumarthi and Gupta, N. and Sheth, J. and Jain, J.M.N. and Rungsung, I. and Kabra, M. and Ranganath, Prajnya and Aggarwal, Shagun and Phadke, S.R. and Girisha, K.M. and Shukla, A. and Datar, C. and Verma, I.C. and Puri, R.D. and Bhavsar, R. and Mistry, M. and Sankar, V.H. and Gowrishankar, K. and Agrawal, Divya and Nair, M. and Danda, S. and Soni, J.P. and Dalal, Ashwin (2020) Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. Journal of Human Genetics, 65 (11). pp. 971-984. ISSN 1434-5161

Arora, Veronica and Setia, Nitika and Dalal, Ashwin and Vanaja, M.C. and Gupta, Deepti and Razdan, Tinku and Phadke, S.R. and Saxena, Renu and Rohtagi, Anshu and Verma, I.C. and Puri, R.D. (2020) Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients. Molecular Genetics and Metabolism Reports, 22. p. 100561. ISSN 2214-4269

Girisha, K.M. and Pande, Shruti and Dalal, Ashwin and Phadke, S.R. (2020) Untapped opportunities for rare disease gene discovery in India. American Journal of Medical Genetics Part A. ISSN 1552-4825 (In Press)

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 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

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

Puri, R.D. and Kapoor, S. and Kishnani, P.S. and Dalal, Ashwin and Gupta, N. and Muranjan, M. and Phadke, S.R. and Sachdeva, A. and Verma, I.C. and Mistry, P.K. (2018) Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics, 55 (2). pp. 143-153. ISSN 0019-6061

Kar, Anjana and Phadke, S.R. and Das Bhowmik, A. and Dalal, Ashwin (2018) Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. American Journal of Medical Genetics Part A, 176 (1). pp. 34-40. ISSN 1552-4825

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

Srivastava, Priyanka and Tuteja, M. and Dalal, Ashwin and Mandal, K. and Phadke, S.R. (2016) Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux. Journal of Genetics, 95 (4). pp. 905-909. ISSN 0022-1333

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

Phadke, S.R. and Kar, A. and Das Bhowmik, A. and Dalal, Ashwin (2016) Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. American Journal of Medical Genetics Part A, 170 (6). pp. 1622-1625. 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

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

Dalal, Ashwin and Das Bhowmik, A. and Agarwal, Divya and Phadke, S.R. (2015) Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. Indian Journal of Medical Research, 142 (2). pp. 220-224. ISSN 0971-5916

Aggarwal, Shagun and Phadke, S.R. (2015) Medical genetics and genomic medicine in India: current status and opportunities ahead. Molecular Genetics & Genomic Medicine, 3 (3). pp. 160-171. ISSN 2324-9269

Stephen, J. and Girisha, K.M. and Dalal, Ashwin and Shukla, A. and Shah, H. and Srivastava, P. and Kornak, U. and Phadke, S.R. (2015) Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. European Journal of Medical Genetics, 58 (1). pp. 21-27. ISSN 1878-0849

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

Patil, S.J. and Rai, G.K. and Bhat, V. and Ramesh, V.A. and Nagarajaram, H.A. and Matalia, J. and Phadke, S.R. (2014) Distal Arthrogryposis Type 5D With a Novel ECEL1 Gene Mutation. American Journal of Medical Genetics Part A, 164A (11). pp. 2857-2862. ISSN 1552-4833

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

Stephen, J. and Shukla, A. and Dalal, Ashwin and Girisha, K.M. and Shah, H. and Gupta, N. and Kabra, M. and Dabadghao, P. and Phadke, S.R. (2014) Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. American Journal of Medical Genetics. Part A, 164A (6). pp. 1482-1489. ISSN 1552-4833

Dalal, Ashwin and Bhavani, G.S. and Padma Priya, T. and Bierhals, T. and Nandineni, M.R. and Danda, S.R. and Danda, D. and Shah, H. and Vijayan, S. and Gowrishankar, K. and Phadke, S.R. and Bidchol, A.M. and Rao, A.P. and Nampoothiri, S. and Kutsche, K. and Girisha, K.M. (2012) Analysis of theWISP3gene in Indian families with progressive pseudorheumatoid dysplasia. American Journal of Medical Genetics Part A, 158A (11). pp. 2820-2828. ISSN 1552-4825

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

Angalena, R. and Aggarwal, Shagun and Phadke, S.R. and Dalal, Ashwin (2012) Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation. International Journal of Laboratory Hematology, 34 (4). e7-e9. ISSN 1751-5521

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

This list was generated on Fri Mar 29 04:02:25 2024 IST.