Lista de obras - Jonathan S Berg - Dominio Público Uruguay

"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

artículo científico publicado en 2017

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2008

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

artículo científico publicado en 2010

A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine

artículo científico publicado en 2016

A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns

scientific article published on 09 November 2018

A microtubule-binding myosin required for nuclear anchoring and spindle assembly

artículo científico publicado en 2004

A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research

artículo científico publicado en 2016

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

artículo científico publicado en 2015

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

artículo científico publicado en 2016

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

artículo científico publicado en 2016

ACMG clinical laboratory standards for next-generation sequencing

artículo científico publicado en 2013

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

artículo científico publicado en 2013

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

artículo científico publicado en 2015

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

scientific article published on 07 March 2019

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

scientific article published on 24 January 2020

An informatics approach to analyzing the incidentalome

artículo científico publicado en 2012

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

artículo científico publicado en 2018

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

scientific article published on 21 August 2018

Assessing the implications of positive genomic screening results

artículo científico publicado en 2020

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

artículo científico publicado en 2017

Characterizing genetic variants for clinical action

artículo científico publicado en 2014

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

article

ClinGen--the Clinical Genome Resource

artículo científico publicado en 2015

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

artículo científico publicado en 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Clinically Relevant Changes in Family History of Cancer Over Time ⬇️

artículo científico publicado el 13 de julio de 2011

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case

scientific article published on 01 October 2018

Common recurrent microduplication syndromes: diagnosis and management in clinical practice

artículo científico publicado en 2010

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

scientific article published on 29 November 2019

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

artículo científico publicado en 2011

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

scientific article published on 18 June 2020

Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

artículo científico publicado en 2019

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

scientific article published on 01 May 2019

Crowdsourcing to define the clinical actionability of incidental findings of genetic testing

artículo científico publicado en 2013

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

artículo científico publicado en 2016

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

article

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

artículo científico publicado en 2013

Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision Making Research in Genomic Sequencing.

artículo científico publicado en 2017

Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR)

artículo científico publicado en 2020

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

artículo científico publicado en 2018

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

artículo científico publicado en 2018

Engaging community stakeholders in research on best practices for clinical genomic sequencing

artículo científico publicado en 2020

Erratum to: How can psychological science inform research about genetic counseling for clinical genomic sequencing?

artículo científico publicado en 2015

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.

artículo científico publicado en 2018

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

artículo científico publicado en 2017

Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity

artículo científico publicado en 2017

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

artículo científico publicado en 2013

Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

scientific article published on 26 April 2019

Exploring concordance and discordance for return of incidental findings from clinical sequencing

artículo científico publicado en 2012

Exploring the importance of case-level clinical information for variant interpretation

artículo científico publicado en 2016

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

scientific article published on 10 December 2019

Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.

artículo científico publicado en 2018

Finding the Rare Pathogenic Variants in a Human Genome

artículo científico publicado en 2017

Generating a taxonomy for genetic conditions relevant to reproductive planning

artículo científico publicado en 2016

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Genetics and heart failure: a concise guide for the clinician

artículo científico publicado en 2015

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

artículo científico publicado en 2017

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

artículo científico publicado en 2020

Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

scientific article published on 17 July 2019

Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews.

artículo científico publicado en 2014

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

artículo científico publicado en 2016

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

artículo científico publicado en 2015

How can psychological science inform research about genetic counseling for clinical genomic sequencing?

artículo científico publicado en 2014

Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays

artículo científico publicado en 2018

Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.

artículo científico publicado en 2015

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice

artículo científico publicado en 2015

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

artículo científico publicado en 2018

Look before you leap: genomic screening in obstetrics and gynecology

artículo científico publicado en 2015

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

artículo científico publicado en 2007

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

artículo científico publicado en 2008

Myosin-X is an unconventional myosin that undergoes intrafilopodial motility.

artículo científico publicado en 2002

Myosin-X provides a motor-based link between integrins and the cytoskeleton.

artículo científico publicado en 2004

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

artículo científico publicado en 2018

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

artículo científico

Newborn Sequencing in Genomic Medicine and Public Health

artículo científico publicado en 2017

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

artículo científico publicado en 2011

Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge

artículo científico publicado en 2011

Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support

artículo científico publicado en 2020

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.

artículo científico publicado en 2017

Parents' perceptions of personal utility of exome sequencing results

artículo científico publicado en 2019

Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing

artículo científico publicado en 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

artículo científico publicado en 2015

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

article published in 2015

Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

artículo científico

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

scientific article published in 2021

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

artículo científico publicado en 2017

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2013

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks

article

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

artículo científico publicado en 2019

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

artículo científico publicado en 2008

Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty

scientific article published on 22 January 2020

Return of genomic results to research participants: the floor, the ceiling, and the choices in between

artículo científico publicado en 2014

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

article

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

artículo científico publicado en 2007

Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.

artículo científico publicado en 2016

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

artículo científico publicado en 2018

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

artículo científico publicado en 2015

The progression of the ClinGen gene clinical validity classification over time

article

The promise and peril of genomic screening in the general population

artículo científico publicado en 2015

The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study

artículo científico publicado en 2017

Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening

artículo científico publicado en 2018

Values clarification and parental decision making about newborn genomic sequencing

artículo científico publicado en 2019

We screen newborns, don’t we?: realizing the promise of public health genomics ⬇️

artículo científico publicado el 7 de marzo de 2013

Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease

artículo científico publicado en 2017

Lista de obras de Jonathan S Berg

"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine

A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns

A microtubule-binding myosin required for nuclear anchoring and spindle assembly

A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

ACMG clinical laboratory standards for next-generation sequencing

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

An informatics approach to analyzing the incidentalome

Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Assessing the implications of positive genomic screening results

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Characterizing genetic variants for clinical action

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

ClinGen--the Clinical Genome Resource

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Clinically Relevant Changes in Family History of Cancer Over Time ⬇️

Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case

Common recurrent microduplication syndromes: diagnosis and management in clinical practice

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Crowdsourcing to define the clinical actionability of incidental findings of genetic testing

Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision Making Research in Genomic Sequencing.

Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR)

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Engaging community stakeholders in research on best practices for clinical genomic sequencing

Erratum to: How can psychological science inform research about genetic counseling for clinical genomic sequencing?

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.

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Exploring the importance of case-level clinical information for variant interpretation

FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation

Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.

Finding the Rare Pathogenic Variants in a Human Genome

Generating a taxonomy for genetic conditions relevant to reproductive planning

Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family

Genetics and heart failure: a concise guide for the clinician

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes

Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews.

Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

How can psychological science inform research about genetic counseling for clinical genomic sequencing?

Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays

Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

Look before you leap: genomic screening in obstetrics and gynecology

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Myosin-X is an unconventional myosin that undergoes intrafilopodial motility.

Myosin-X provides a motor-based link between integrins and the cytoskeleton.

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

Newborn Sequencing in Genomic Medicine and Public Health

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Next-generation DNA sequencing, regulation, and the limits of paternalism: the next challenge

Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.