Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India

[1]  Yujun Han,et al.  Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios , 2015, Genetics in Medicine.

[2]  Deanna M. Church,et al.  ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..

[3]  K. Boycott,et al.  Rare-disease genetics in the era of next-generation sequencing: discovery to translation , 2013, Nature Reviews Genetics.

[4]  D. Danda,et al.  A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis. , 2013, Seminars in arthritis and rheumatism.

[5]  Hitesh Shah,et al.  Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia , 2012, American journal of medical genetics. Part A.

[6]  G. Mortier,et al.  The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

[7]  J. Shendure,et al.  Exome sequencing as a tool for Mendelian disease gene discovery , 2011, Nature Reviews Genetics.

[8]  Christian Gilissen,et al.  Unlocking Mendelian disease using exome sequencing , 2011, Genome Biology.

[9]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[10]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[11]  R. Moon,et al.  The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling. , 2007, The Journal of clinical investigation.

[12]  R. Pauli,et al.  Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia , 1999, Nature Genetics.

[13]  B. Ansell,et al.  Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance. , 1982, The Journal of bone and joint surgery. British volume.