• 439 Citations
  • 13 h-Index
20122019
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Personal profile

Research Interests

Genetics

External positions

Fingerprint Dive into the research topics where Anju Shukla is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Fetus Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
India Medicine & Life Sciences

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Research Output 2012 2019

  • 439 Citations
  • 13 h-Index
  • 77 Article
  • 6 Letter
  • 4 Comment/debate
  • 1 Review article

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

Skeleton
Proteins
Brachydactyly
Endoribonucleases
Exome

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

Somashekar, P. H., Narayanan, D. L., Jagadeesh, S., Suresh, B., Vaishnavi, R. D., Bielas, S., Girisha, K. M. & Shukla, A., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Heterogeneous-Nuclear Ribonucleoproteins
Heterogeneous Nuclear RNA
Muscle Hypotonia
Mosaicism

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence

Radhakrishnan, P., Shukla, A., Girisha, K. M. & Nayak, S. S., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Type 1 Pena Shokeir syndrome

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Girisha, K. M., Bhavani, G. S., Shah, H., Moirangthem, A., Shukla, A., Kim, O. H., Nishimura, G. & Mortier, G. R., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Epiphyses
Causality
Spine
Phenotype
Osteoarthritis with Mild Chondrodysplasia