Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders-Reference-Cited by-同舟云学术

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders

Published:2017-10-20 Issue:1 Volume:93 Page:8-16
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am J Hematol

Author:

Romasko Edward J.¹^ORCID,Devkota Batsal²,Biswas Sawona¹,Jayaraman Vijayakumar¹,Rajagopalan Ramakrishnan²,Dulik Matthew C.³,Thom Christopher S.⁴,Choi Jiwon¹,Jairam Sowmya⁵^ORCID,Scarano Maria I.⁶,Krantz Ian D.¹⁴,Spinner Nancy B.³⁷,Conlin Laura K.³⁷,Lambert Michele P.⁴⁸^ORCID

Affiliation:

1. Division of Human Genetics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Department of Biomedical and Health Informatics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Division of Genomic Diagnostics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

4. Department of Pediatrics; University of Pennsylvania School of Medicine, Philadelphia; Philadelphia Pennsylvania

5. Department of Pathology; Memorial Sloan Kettering Cancer Center; New York New York

6. Division of Genetics; Cooper Health System; Camden New Jersey

7. Department of Pathology and Laboratory Medicine; University of Pennsylvania School of Medicine; Philadelphia Pennsylvania

8. Division of Hematology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Hematology

Reference54 articles.

1. Update on the inherited platelet disorders;Lambert;Curr Opin Hematol.,2015

2. Inherited disorders of platelet function: selected updates;Nurden;J Thromb Haemost.,2015

3. Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine;Green;Am J Hum Genet.,2016

4. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death;Li;Hum Genomics.,2015

5. Inherited thrombocytopenia: when a low platelet count does not mean ITP;Drachman;Blood.,2004

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