• 1655 Citations
  • 20 h-Index
20032020

Research output per year

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Research Output

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Letter
2020

Spastic Paraplegia Type 56 in a Young Child

Samaddar, S., Kaur, P., Rajagopal, K. V., Girisha, K. M., Shukla, A. & Sharma, S., 01-01-2020, (Accepted/In press) In : Indian Journal of Pediatrics.

Research output: Contribution to journalLetter

2019

LACC1 gene mutation in three sisters with polyarthritis without systemic features

Singh, A., Suri, D., Vignesh, P., Anjani, G., Jacob, P. & Girisha, K. M., 01-01-2019, (Accepted/In press) In : Annals of the Rheumatic Diseases. 216263.

Research output: Contribution to journalLetter

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

1 Citation (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

3 Citations (Scopus)
2016

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

93 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

3 Citations (Scopus)

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

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

13 Citations (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

1 Citation (Scopus)

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

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

2 Citations (Scopus)
2012

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

7 Citations (Scopus)
2010
2 Citations (Scopus)
2006

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

1 Citation (Scopus)