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Literature DB >> 24066368

Special report: exome sequencing for clinical diagnosis of patients with suspected genetic disorders.

Abstract

Entities: Disease Species

Mesh：

Year: 2013 PMID： 24066368

Source DB: PubMed Journal: Technol Eval Cent Assess Program Exec Summ

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12 in total

1. 'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.

Authors: Jason L Vassy; Kurt D Christensen; Melody J Slashinski; Denise M Lautenbach; Sridharan Raghavan; Jill Oliver Robinson; Jennifer Blumenthal-Barby; Lindsay Zausmer Feuerman; Lisa Soleymani Lehmann; Michael F Murray; Robert C Green; Amy L McGuire
Journal: Per Med Date: 2015 Impact factor: 2.512

Review 2. Clinical exome sequencing in neurologic disease.

Authors: Brent L Fogel; Saty Satya-Murti; Bruce H Cohen
Journal: Neurol Clin Pract Date: 2016-04

3. Diagnosis and treatment of limb-girdle and distal dystrophies: Payment policy perspectives.

Authors: Raghav Govindarajan; Katie M Shepard; Lyell K Jones
Journal: Neurol Clin Pract Date: 2015-10

4. Clinical integration of next generation sequencing: coverage and reimbursement challenges.

Authors: Patricia A Deverka; Jennifer C Dreyfus
Journal: J Law Med Ethics Date: 2014 Impact factor: 1.718

5. The emergence of diagnostic imaging technologies in breast cancer: discovery, regulatory approval, reimbursement, and adoption in clinical guidelines.

Authors: Laura S Gold; Gregory Klein; Lauren Carr; Larry Kessler; Sean D Sullivan
Journal: Cancer Imaging Date: 2012-01-25 Impact factor: 3.909

6. Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Authors: Rajani Battu; Anshuman Verma; Ramesh Hariharan; Shuba Krishna; Ravi Kiran; Jemima Jacob; Aparna Ganapathy; Vedam L Ramprasad; Govindasamy Kumaramanickavel; Nallathambi Jeyabalan; Arkasubhra Ghosh
Journal: Biomed Res Int Date: 2015-04-02 Impact factor: 3.411

10. MutAid: Sanger and NGS Based Integrated Pipeline for Mutation Identification, Validation and Annotation in Human Molecular Genetics.

Authors: Ram Vinay Pandey; Stephan Pabinger; Albert Kriegner; Andreas Weinhäusel
Journal: PLoS One Date: 2016-02-03 Impact factor: 3.240