Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Author:

Wynn J.1ORCID,Ottman R.2,Duong J.3,Wilson A.L.4,Ahimaz P.1,Martinez J.1,Rabin R.5,Rosen E.5,Webster R.6,Au C.4,Cho M.T.47,Egan C.4,Guzman E.4,Primiano M.4,Shaw J.E.4,Sisson R.4,Klitzman R.L.8,Appelbaum P.S.8,Lichter-Konecki U.1,Anyane-Yeboa K.1,Iglesias A.1,Chung W.K.19

Affiliation:

1. Division of Clinical Genetics, Department of Pediatrics; Columbia University Medical Center; New York New York

2. G.H. Sergievsky Center and Departments of Epidemiology and Neurology; Columbia University Medical Center and NY State Psychiatric Institute; New York New York

3. Department of Sociomedical Sciences, Mailman School of Public Health; Columbia University; New York New York

4. Division of Clinical Genetics, Department of Pediatrics; New York Presbyterian Hospital, Columbia University; New York New York

5. College of Liberal Arts and Sciences; Long Island University - Post Campus; Brookville New York

6. Columbia University Medical School; New York New York

7. GeneDx; Gaithersburg Maryland

8. Department of Psychiatry; Columbia University Medical Center and NY State Psychiatric Institute; New York New York

9. Department of Medicine; Columbia University Medical Center; New York New York

Funder

National Human Genome Research Institute

Jane Engelberg Memorial Fellowship

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric Center's experience;Valencia;Front Pediatr,2015

2. Practical considerations in the clinical application of whole-exome sequencing;Shashi;Clin Genet,2016

3. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014

4. Clinical exome sequencing for genetic identification of rare Mendelian disorders;Lee;JAMA,2014

5. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions;Farwell;Genet Med,2014

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