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Publication Year

  • 2019
  • 2018
  • 2017
  • 2016

Author

  • Hitesh Hasmukhlal Shah
2019

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

Narayanan, D. L., Shukla, A., Kausthubham, N., Bhavani, G. S., Shah, H., Mortier, G. & Girisha, K. M., 01-01-2019, In : American Journal of Medical Genetics, Part A. 179, 9, p. 1709-1717 9 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Management of the knee problems in spastic cerebral palsy

Ganjwala, D. & Shah, H., 01-01-2019, In : Indian Journal of Orthopaedics. 53, 1, p. 53-62 10 p.

Research output: Contribution to journalArticle

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

Uttarilli, A., Shah, H., Bhavani, G. S. L., Upadhyai, P., Shukla, A. & Girisha, K. M., 01-03-2019, In : Bone. 120, p. 204-211 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2018

A review of skeletal dysplasia research in India

Uttarilli, A., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2018, In : Journal of Postgraduate Medicine. 64, 2, p. 98-103 6 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Mrosk, J., Bhavani, G. S. L., Shah, H., Hecht, J., Krüger, U., Shukla, A., Kornak, U. & Girisha, K. M., 01-05-2018, In : Bone. 110, p. 368-377 10 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V. & Girisha, K. M., 01-07-2018, In : Clinical Genetics. 94, 1, p. 159-164 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

What Factors Influence Union and Refracture of Congenital Pseudarthrosis of the Tibia? A Multicenter Long-term Study

Shah, H., Joseph, B., Nair, B. V. S., Kotian, D. B., Choi, I. H., Richards, B. S., Johnston, C., Madhuri, V., Dobbs, M. B. & Dahl, M., 01-01-2018, In : Journal of Pediatric Orthopaedics. 38, 6, p. e332-e337

Research output: Contribution to journalArticle

5 Citations (Scopus)
2017

A novel sequence variant in SFRP4 causing Pyle disease

Galada, C., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2017, In : Journal of Human Genetics. 62, 5, p. 575-576 2 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)

A rare case of congenital tibiofemoral fusion with bilateral proximal femoral focal deficiency: A case report

Imthiaz, V. K., Shah, K. & Shah, H., 12-04-2017, In : JBJS Case Connector. 7, 2, e22.

Research output: Contribution to journalArticle

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Guo, L., Girisha, K. M., Iida, A., Hebbar, M., Shukla, A., Shah, H., Nishimura, G., Matsumoto, N., Nismath, S., Miyake, N. & Ikegawa, S., 01-03-2017, In : Journal of Human Genetics. 62, 3, p. 437-441 5 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

Kotabagi, S., Shah, H., Shukla, A. & Girisha, K. M., 01-09-2017, In : Clinical Genetics. 92, 3, p. 323-326 4 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)
2016

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. L. & Kutsche, K., 01-08-2016, In : European Journal of Human Genetics. 24, 8, p. 1206-1210 5 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Bhavani, G. S., Shah, H., Shukla, A., Gupta, N., Gowrishankar, K., Rao, A. P., Kabra, M., Agarwal, M., Ranganath, P., Ekbote, A. V., Phadke, S. R., Kamath, A., Dalal, A. & Girisha, K. M., 01-02-2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 410-417 8 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

Congenital posteromedial bowing of the tibia

Joseph, B., Shah, H. & Siddesh, N. D., 01-01-2016, Pediatric Lower Limb Deformities: Principles and Techniques of Management. Springer International Publishing AG, p. 495-502 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Late presented case of distal humerus epiphyseal separation in a newborn

Mane, P. P., Challawar, N. S. & Shah, H., 01-01-2016, In : BMJ Case Reports. 2016, A40.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Phenotype and genotype in patients with Larsen syndrome: Clinical homogeneity and allelic heterogeneity in seven patients

Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 06-04-2016, In : BMC Medical Genetics. 17, 1, 27.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia

Shah, K. & Shah, H., 16-08-2016, In : BMJ Case Reports. 2016

Research output: Contribution to journalArticle

Unclassified tibial hemimelia

Senthil, V., Kottamttavide, I. V. & Shah, H., 01-01-2016, In : BMJ Case Reports. 2016, bcr2016215305.

Research output: Contribution to journalArticle