Jonathan S Berg
Affiliation: University of North Carolina
- An informatics approach to analyzing the incidentalomeJonathan S Berg
Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
Genet Med 15:36-44. 2013..We therefore implemented for the first time a strategy that utilizes an a priori structured framework and a conservative threshold for selecting clinically relevant incidental findings...
- Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testingJonathan S Berg
Departments of Genetics, The University of North Carolina Chapel Hill, North Carolina 27599 7264, USA
Genet Med 13:218-29. 2011..The objective of this study was to investigate the performance characteristics of exon-capture technology coupled with massively parallel sequencing for clinical diagnostic evaluation...
- High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology SettingKristy Lee
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina Electronic address
Am J Ophthalmol 160:354-363.e9. 2015..To assess the diagnostic yield and the practicality of implementing whole exome sequencing within a clinical ophthalmology setting...
- The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and reviewNatario L Couser
Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina
Am J Med Genet A 167:2176-81. 2015..Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome...
- Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaMichael R Knowles
Department of Medicine, UNC School of Medicine, Chapel Hill, NC 27599, USA
Am J Hum Genet 92:99-106. 2013..These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders...
- How can psychological science inform research about genetic counseling for clinical genomic sequencing?Cynthia M Khan
Department of Health Behavior, University of North Carolina Chapel Hill, 312 Rosenau Hall, CB 7440, Chapel Hill, NC, 27599 7440, USA
J Genet Couns 24:193-204. 2015..results do and do not mean?; (2) How and by whom should genomic sequencing results be communicated to patients and their family members?; and (3) How do patients and their families respond to uncertainties related to genomic information? ..
- Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research ConsortiumJonathan S Berg
1 Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA 2 Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA 3 Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA 4 Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
Genet Med 15:860-7. 2013..Genet Med 15 11, 860-867.Genetics in Medicine (2013); 15 11, 860-867. doi:10.1038/gim.2013.133. ..