• 1375 Citations
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20032019
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Research Output 2003 2019

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Letter
2019

The third family with Eiken syndrome

Jacob, P., Soni, J. P., Mortier, G. & Girisha, K. M., 01-10-2019, In : Clinical Genetics. 96, 4, p. 378-379 2 p.

Research output: Contribution to journalLetter

Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy

Hebbar, M., Chandra, T., Shukla, A., Kadavigere, R. & Girisha, K. M., 01-04-2017, In : Indian Journal of Pediatrics. 84, 4, p. 330-331 2 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Chaudhary, A. K., Mohapatra, R., Nagarajaram, H. A., Ranganath, P., Dalal, A., Dutta, A., Danda, S., Girisha, K. M. & Bashyam, M. D., 01-01-2017, In : Journal of the European Academy of Dermatology and Venereology. 31, 1, p. e17-e20

Research output: Contribution to journalLetter

2016
77 Citations (Scopus)

Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Rahim, S. A., Alkuraya, F. S., Casanova, J. L., Gleeson, J. G., Abdou, M., Abhytankar, A., Adimi, P., Ahmad, J., Akcakus, M. & 31 others, Aksu, G., Al Hajjar, S., Al Juamaah, S., Al Muhsen, S., Al Sannaa, N., Al Tameni, S., Al-Aama, J., Al-Allawi, N., Al-Baradie, R., Al-Gazali, L., Al-Hashem, A., Al-Herz, W., Al-Jeaid, D., Al-Tawari, A., Alangari, A., Alcais, A., AlFawaz, T. S., Alsum, Z., Ammar-Khodja, A., Amouian, S., Arikan, C., Aryani, O., Aslanger, A., Aydogmus, C., Aytekin, C., Azam, M., Bansagi, B., Barbouche, M. R., Bastaki, L., Girisha, K. M. & Greater Middle East Variome Consortium, 01-09-2016, In : Nature Genetics. 48, 9, p. 1071-1079 9 p.

Research output: Contribution to journalLetter

Genetic Association Studies
Middle East
Population
Consanguinity
Human Migration
3 Citations (Scopus)

Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C

Hebbar, M., Prasada L, H., Bhowmik, A. D., Trujillano, D., Shukla, A., Chakraborti, S., Kandaswamy, K. K., Rolfs, A., Kamath, N., Dalal, A., Bielas, S. & Girisha, K. M., 01-09-2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2486-2489 4 p.

Research output: Contribution to journalLetter

Unusual skin manifestations in a patient with menkes disease

Gupta, D., Rao, R., Girisha, K. M., Stephen, J. & Phadke, S. R., 01-11-2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 3039-3040 2 p.

Research output: Contribution to journalLetter

2015
12 Citations (Scopus)

Novel and recurrent mutations in WISP3 and an atypical phenotype

Bhavani, G. S., Shah, H., Dalal, A. B., Shukla, A., Danda, S., Aggarwal, S., Phadke, S. R., Gupta, N., Kabra, M., Gowrishankar, K., Gupta, A., Bhat, M., Puri, R. D., Bijarnia-Mahay, S., Nampoothiri, S., Mohanasundaram, K. M., Rajeswari, S., Kulkarni, A. M., Kulkarni, M. L., Ranganath, P. & 3 others, Ramadevi, A. R., Hariharan, S. V. & Girisha, K. M., 01-10-2015, In : American Journal of Medical Genetics, Part A. 167, 10, p. 2481-2484 4 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

Bartakke, S., Saindane, A., Udgirkar, V., Shrividya, S., Bhavani, G. S. L. & Girisha, K. M., 01-11-2015, In : Indian Journal of Pediatrics. 82, 11, p. 1073-1074 2 p.

Research output: Contribution to journalLetter

Research letters

Nayak, S. S., Shukla, A., Girisha, K. M., Doreswamy, S. M., Chakkarapani, A. A., Murthy, P., Devaraj Naik, K., Preetha, R., Ramachandran, A. M. & Nath, D., 2015, In : Indian Pediatrics. 52, 1, p. 73-76 4 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)

Symmetrical Terminal Transverse Limb Deficiencies

Agarwal, D., Nayak, S. S., Adiga, P. K., Phadke, S. R. & Girisha, K. M., 01-05-2015, In : Indian Journal of Pediatrics. 82, 5, p. 478-479 2 p.

Research output: Contribution to journalLetter

2012
6 Citations (Scopus)

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Coutinho, M. F., Santos, L. D. S., Girisha, K. M., Satyamoorthy, K., Lacerda, L., Prata, M. J. & Alves, S., 05-2012, In : American Journal of Medical Genetics, Part A. 158 A, 5, p. 1225-1228 4 p.

Research output: Contribution to journalLetter

2010
2 Citations (Scopus)
2006
1 Citation (Scopus)

Basal ganglia changes: A diagnostic clue to Sandhoff disease [1]

Girisha, K. M. & Phadke, S. R., 10-2006, In : Indian Pediatrics. 43, 10, p. 919-920 2 p.

Research output: Contribution to journalLetter