Jonathan S Berg

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Jonathan S



Publications in SciGraph latest 50 shown

  • 2021-07-20 Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing in BMC BIOINFORMATICS
  • 2021-06-14 Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial in TRIALS
  • 2021-03-29 Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making in GENOME MEDICINE
  • 2020-06-18 Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice in GENETICS IN MEDICINE
  • 2020-05-26 Development and validation of a measure of comprehension of genomic screening—negative results (CoG-NR) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-05-18 Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support in MATERNAL AND CHILD HEALTH JOURNAL
  • 2020-01-28 Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature in TRANSLATIONAL PSYCHIATRY
  • 2020-01-24 An approach to integrating exome sequencing for fetal structural anomalies into clinical practice in GENETICS IN MEDICINE
  • 2019-12-31 Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework in GENOME MEDICINE
  • 2019-12-20 Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation in GENOME MEDICINE
  • 2019-12-20 Parents’ perceptions of personal utility of exome sequencing results in GENETICS IN MEDICINE
  • 2019-12-10 FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation in NPJ GENOMIC MEDICINE
  • 2019-11-29 Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels in GENOME MEDICINE
  • 2019-07-25 Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes in GENETICS IN MEDICINE
  • 2019-07-17 Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes in GENETICS IN MEDICINE
  • 2019-04-26 Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders in GENETICS IN MEDICINE
  • 2018-10-05 Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study in GENETICS IN MEDICINE
  • 2018-09-21 Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings in GENETICS IN MEDICINE
  • 2018-07-10 Navigating the nuances of clinical sequence variant interpretation in Mendelian disease in GENETICS IN MEDICINE
  • 2018-06-28 Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol in TRIALS
  • 2018-02-01 Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings in GENETICS IN MEDICINE
  • 2017-10-26 The who, what and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study in GENETICS IN MEDICINE
  • 2017-10-02 “Possibly positive or certainly uncertain?”: Participants’ responses to uncertain diagnostic results from exome sequencing in GENETICS IN MEDICINE
  • 2017-08-31 Navigating the research–clinical interface in genomic medicine: analysis from the CSER Consortium in GENETICS IN MEDICINE
  • 2017-08-03 Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete choice experiment in GENETICS IN MEDICINE
  • 2017-05-18 Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges in GENETICS IN MEDICINE
  • 2017-05-11 Erratum: CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing in GENETICS IN MEDICINE
  • 2017-01-12 Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing in GENETICS IN MEDICINE
  • 2016-11-03 A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories in GENETICS IN MEDICINE
  • 2016-09-21 A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research in GENOME MEDICINE
  • 2016-08-25 Exploring the importance of case-level clinical information for variant interpretation in GENETICS IN MEDICINE
  • 2016-04-28 A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation in GENETICS IN MEDICINE
  • 2015-11-05 The Promise and Peril of Genomic Screening in the General Population in GENETICS IN MEDICINE
  • 2015-08-25 Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice in CURRENT GENETIC MEDICINE REPORTS
  • 2015-08-13 A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing in GENETICS IN MEDICINE
  • 2015-01-08 Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing in GENETICS IN MEDICINE
  • 2014-09-18 Genomic Screening of the General Adult Population: Key Concepts for Assessing Net Benefit with Systematic Evidence Reviews in GENETICS IN MEDICINE
  • 2014-07-08 TBCRC 018: phase II study of iniparib in combination with irinotecan to treat progressive triple negative breast cancer brain metastases in BREAST CANCER RESEARCH AND TREATMENT
  • 2014-04-03 Long-term risk of medical conditions associated with breast cancer treatment in BREAST CANCER RESEARCH AND TREATMENT
  • 2014-02-08 GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia in JOURNAL OF NEUROLOGY
  • 2013-11-06 Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium in GENETICS IN MEDICINE
  • 2013-07-25 ACMG clinical laboratory standards for next-generation sequencing in GENETICS IN MEDICINE
  • 2013-06-20 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing in GENETICS IN MEDICINE
  • 2013-05-06 Response to Lindor et al. in GENETICS IN MEDICINE
  • 2013-04-04 Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies in GENETICS IN MEDICINE
  • 2013-03-07 We screen newborns, don’t we?: realizing the promise of public health genomics in GENETICS IN MEDICINE
  • 2012-09-20 An informatics approach to analyzing the incidentalome in GENETICS IN MEDICINE
  • 2012-03-15 Exploring concordance and discordance for return of incidental findings from clinical sequencing in GENETICS IN MEDICINE
  • 2011-12-04 Dnmt3a is essential for hematopoietic stem cell differentiation in NATURE GENETICS
  • 2011-05-09 Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time in GENETICS IN MEDICINE
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