Literature DB >> 25622760

Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis.

A Gupta1, Y K Sharma1, S K Vellarikkal2,3, R Jayarajan2, V Dixit2, A Verma2, S Sivasubbu2,3, V Scaria3,4.   

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Year:  2015        PMID： 25622760     DOI： 10.1111/jdv.12983

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  5 in total

1.  Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa.

Authors:  Shamsudheen Karuthedath Vellarikkal; Rijith Jayarajan; Ankit Verma; Sreelata Nair; Rowmika Ravi; Vigneshwar Senthivel; Sridhar Sivasubbu; Vinod Scaria
Journal:  F1000Res       Date:  2016-05-17

2.  Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess.

Authors:  Ranjit Narayanan; Shamsudheen Karuthedath Vellarikkal; Rijith Jayarajan; Ankit Verma; Vishal Dixit; Vinod Scaria; Sridhar Sivasubbu
Journal:  F1000Res       Date:  2016-07-06

Review 3.  Genomics of rare genetic diseases-experiences from India.

Authors:  Sridhar Sivasubbu; Vinod Scaria
Journal:  Hum Genomics       Date:  2019-09-25       Impact factor: 4.639

Review 4.  Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Authors:  Arshia Angural; Akshi Spolia; Ankit Mahajan; Vijeshwar Verma; Ankush Sharma; Parvinder Kumar; Manoj Kumar Dhar; Kamal Kishore Pandita; Ekta Rai; Swarkar Sharma
Journal:  Front Genet       Date:  2020-04-30       Impact factor: 4.599

5.  Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Authors:  Aayush Gupta; Yugal Sharma; Kirti Deo; Shamsudheen Vellarikkal; Rijith Jayarajan; Vishal Dixit; Ankit Verma; Vinod Scaria; Sridhar Sivasubbu
Journal:  F1000Res       Date:  2015-07-31
  5 in total

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