Literature DB >> 24648374

Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity.

Ian Casci1, William Accousti, Yves Lacassie.   

Abstract

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Year:  2014        PMID： 24648374     DOI： 10.1002/ajmg.a.36430

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.

Authors:  Zöe Powis; Kelly D Farwell; Christina L Alamillo; Sha Tang
Journal:  J Hum Genet       Date:  2015-10-22       Impact factor: 3.172

2.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Authors:  Kelly D Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Elizabeth C Chao; Brigette Tippin Davis; Ruth M Baxter; Wenqi Zeng; Cameron Mroske; Melissa C Parra; Stephanie K Gandomi; Ira Lu; Xiang Li; Hong Lu; Hsiao-Mei Lu; David Salvador; David Ruble; Monica Lao; Soren Fischbach; Jennifer Wen; Shela Lee; Aaron Elliott; Charles L M Dunlop; Sha Tang
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822
  2 in total

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