• 1635 Citations
  • 15 h-Index
20072020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
2020

A rare case of rubber band syndrome of wrist with distal radius and ulna fracture

Narayana Kurup, J. K. & Shah, H. H., 01-07-2020, In : Journal of Orthopaedics. 20, p. 60-62 3 p.

Research output: Contribution to journalArticle

Does the timing of treatment affect complications of pediatric femoral neck fractures?

Singh, K. A., Chandankere, V. & Shah, H., 01-11-2020, In : Journal of Orthopaedics. 22, p. 207-212 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Evolution of legg-calvé-perthes disease following proximal femoral varus osteotomy performed in the avascular necrosis stage:A prospective study

Singh, K. A., Shah, H., Joseph, B., Aarvold, A. & Kim, H. K. W., 02-2020, In : Journal of Children's Orthopaedics. 14, 1, p. 58-67 10 p.

Research output: Contribution to journalArticle

Open Access

Hemiepiphysiodesis using 2-holed reconstruction plate for correction of angular deformity of the knee in children

Narayana kurup, J. K. & Shah, H. H., 01-07-2020, In : Journal of Orthopaedics. 20, p. 54-59 6 p.

Research output: Contribution to journalArticle

Orthopedic manifestation as the presenting symptom of acute lymphoblastic leukemia

Raj B K, A., Singh, K. A. & Shah, H., 01-11-2020, In : Journal of Orthopaedics. 22, p. 326-330 5 p.

Research output: Contribution to journalArticle

Open Access

Surgical management of the congenital dislocation of the knee and hip in children presented after six months of age

Amrath, A. R., Singh, K. A. & Shah, H., 2020, (Accepted/In press) In : International Orthopaedics.

Research output: Contribution to journalArticle

Open Access
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

3 Citations (Scopus)
2018

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

12 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

6 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

11 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)

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

2015

A rare combination of amniotic constriction band with osteogenesis imperfecta

Shah, K. H. I. & Shah, H., 01-01-2015, In : BMJ Case Reports. 2015

Research output: Contribution to journalArticle

A retrospective study of clinical profile and drug prescribing pattern in osteoporosis in a tertiary care hospital

Tripathy, A., Adiga, S., Shah, H. H., Shanbhag, T. V. & Mahesh Kumar, D., 01-01-2015, In : International Journal of Pharmacy and Pharmaceutical Sciences. 7, 10, p. 390-393 4 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
19 Citations (Scopus)

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

Stephen, J., Girisha, K. M., Dalal, A., Shukla, A., Shah, H., Srivastava, P., Kornak, U. & Phadke, S. R., 01-01-2015, In : European Journal of Medical Genetics. 58, 1, p. 21-27 7 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

Recurrent and novel GLB1 mutations in India

Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., Ekbote, A. V., Puri, R. D., Phadke, S. R., Gowrishankar, K., Aggarwal, S., Ranganath, P., Sharda, S., Kamate, M. & 10 others, Datar, C. A., Bhat, K., Kamath, N., Shah, H., Krishna, S., Gopinath, P. M., Verma, I. C., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 10-08-2015, In : Gene. 567, 2, p. 173-181 9 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)
2014

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

Girisha, K. M., Bidchol, A. M., Kamath, P. S., Shah, K. H., Mortier, G. R., Mundlos, S. & Shah, H., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 898-906 9 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R. & Kutsche, K., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 1035-1040 6 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis

Daly, S. B., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., Al-Sheqaih, N., Mueed Bidchol, A., Banka, S., Newman, W. G. & Girisha, K. M., 2014, In : Molecular Syndromology. 5, 5, p. 218-228 11 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Bidchol, A. M., Dalal, A., Shah, H., S, S., Nampoothiri, S., Kabra, M., Gupta, N., Danda, S., Gowrishankar, K., Phadke, S. R., Kapoor, S., Kamate, M., Verma, I. C., Puri, R. D., Sankar, V. H., Devi, A. R. R., Patil, S. J., Ranganath, P., Jain, S. J. M. N., Agarwal, M. & 7 others, Singh, A., Mishra, P., Tamhankar, P. M., Gopinath, P. M., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 01-11-2014, In : American Journal of Medical Genetics, Part A. 164, 11, p. 2793-2801 9 p.

Research output: Contribution to journalArticle

19 Citations (Scopus)

Intra-articular osteoid osteoma of the distal humerus: A diagnostic challenge

Challawar, N. S. & Shah, H. H., 06-03-2014, In : BMJ Case Reports.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

Stephen, J., Shukla, A., Dalal, A., Girisha, K. M., Shah, H., Gupta, N., Kabra, M., Dabadghao, P. & Phadke, S. R., 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1482-1489 8 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)

The sphericity deviation score: A quantitative radiologic outcome measure of Legg-Calvé perthes disease applicable at the stage of healing and at skeletal maturity

Siddesh, N. D., Shah, H., Tercier, S., Pai, H., Nair, S. & Joseph, B., 01-01-2014, In : Journal of Pediatric Orthopaedics. 34, 5, p. 522-528 7 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Thorn-induced pseudotumour of the fibula

Challawar, N. S., Sud, V. & Shah, H., 16-05-2014, In : BMJ Case Reports.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2013
5 Citations (Scopus)

Quantitative measures for evaluating the radiographic outcome of Legg-Calvé-Perthes disease

Shah, H., Siddesh, N. D., Pai, H., Tercier, S. & Joseph, B., 20-02-2013, In : Journal of Bone and Joint Surgery - Series A. 95, 4, p. 354-361 8 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

The fate of the joint space in Legg-Calvé-Perthes' disease

Vijayan, S., Mehta, O., Jacob, G., Siddesh, N. D., Shah, H. & Joseph, B., 01-03-2013, In : Skeletal Radiology. 42, 3, p. 341-345 5 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2012

A child with Erysipelothrix arthritis-beware of the little known

Mukhopadhyay, C., Shah, H., Vandana, K. E., Munim, F. & Vijayan, S., 01-01-2012, In : Asian Pacific Journal of Tropical Biomedicine. 2, 6, p. 503-504 2 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Dalal, A., Bhavani, S. L., Togarrati, P. P., Bierhals, T., Nandineni, M. R., Danda, S., Danda, D., Shah, H., Vijayan, S., Gowrishankar, K., Phadke, S. R., Bidchol, A. M., Rao, A. P., Nampoothiri, S., Kutsche, K. & Girisha, K. M., 11-2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2820-2828 9 p.

Research output: Contribution to journalArticle

44 Citations (Scopus)

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Klopocki, E., Kähler, C., Foulds, N., Shah, H., Joseph, B., Vogel, H., Lüttgen, S., Bald, R., Besoke, R., Held, K., Mundlos, S. & Kurth, I., 01-06-2012, In : European Journal of Human Genetics. 20, 6, p. 705-708 4 p.

Research output: Contribution to journalArticle

26 Citations (Scopus)

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Klopocki, E., Lohan, S., Doelken, S. C., Stricker, S., Ockeloen, C. W., de Aguiar, R. S. T., Lezirovitz, K., Netto, R. C. M., Jamsheer, A., Shah, H., Kurth, I., Habenicht, R., Warman, M., Devriendt, K., Kordaß, U., Hempel, M., Rajab, A., Mäkitie, O., Naveed, M., Radhakrishna, U. & 3 others, Antonarakis, S. E., Horn, D. & Mundlos, S., 01-02-2012, In : Journal of Medical Genetics. 49, 2, p. 119-125 7 p.

Research output: Contribution to journalArticle

51 Citations (Scopus)

Environmental tobacco and wood smoke increase the risk of legg-calvé-perthes disease hip

Daniel, A. B., Shah, H., Kamath, A., Guddettu, V. & Joseph, B., 09-2012, In : Clinical Orthopaedics and Related Research. 470, 9, p. 2369-2375 7 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)
1 Citation (Scopus)