J. Berg

发表

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

Marc S. Williams, R. Green, R. Nussbaum, 2013, Genetics in Medicine.

An informatics approach to analyzing the incidentalome

James P Evans, J. Berg, Michael C. Adams, 2012, Genetics in Medicine.

ACMG clinical laboratory standards for next-generation sequencing

Joshua L. Deignan, H. Rehm, J. Berg, 2013, Genetics in Medicine.

ClinGen--the Clinical Genome Resource.

Heidi L Rehm, Jonathan S Berg, Stephen T Sherry, 2015, The New England journal of medicine.

Comprehensive molecular portraits of human breast tumors

Steven J. M. Jones, Andrew H. Beck, Joshua F. McMichael, 2012, Nature.

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

A. Olshan, B. Rimer, James P Evans, 2013, Genetics in Medicine.

Dnmt3a is essential for hematopoietic stem cell differentiation

J. Berg, J. Issa, J. Jelinek, 2011, Nature Genetics.

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

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

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

Muin J Khoury, Jonathan S Berg, M. Khoury, 2011, Genetics in Medicine.

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

Robert C. Green, Heidi L. Rehm, Levi Garraway, 2013, Genetics in Medicine.

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

Heidi L Rehm, Susan M Wolf, Laura M Amendola, 2014, American journal of human genetics.

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

Jonathan S Berg, Ingrid A Holm, Yvonne Bombard, 2015, American journal of human genetics.

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

Robert C. Green, Gail P. Jarvik, Jonathan S. Berg, 2017, Genetics in Medicine.

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

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

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

J. Berg, K. Meagher, 2018, Personalized medicine.

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

G. Henderson, James P Evans, J. Berg, 2017, Genetics in Medicine.

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

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

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

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

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

J. Berg, Julianne M. O’Daniel, A. K. Foreman, 2020, Journal of genetic counseling.

Characterizing genetic variants for clinical action

Kensaku Kawamoto, Nazneen Rahman, Elaine Lyon, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Myosin X is a downstream effector of PI(3)K during phagocytosis

J. Berg, M. Cammer, B. Dale, 2002, Nature Cell Biology.

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

Heidi L Rehm, Jonathan S Berg, Leslie G Biesecker, 2017, Genetics in Medicine.

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

Robert C. Green, Heidi L. Rehm, Jonathan S. Berg, 2012, Genetics in Medicine.

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

J. Berg, N. Brewer, C. Rini, 2017, MDM policy & practice.

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

J. Berg, D. Bailey, C. Powell, 2017, Genetics in Medicine.

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

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

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

J. Berg, S. Strömblad, P. Lång, 2004, Nature Cell Biology.

An argument against a role for Oct4 in somatic stem cells.

J. Berg, M. Goodell, 2007, Cell stem cell.

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

B. Fernandez, P. Stankiewicz, J. Lupski, 2007, Human genetics.

Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis

J. Berg, J. Crowley, Jia Wen, 2022, medRxiv.

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation

Marina T. DiStefano, H. Rehm, A. Hamosh, 2022, Cell genomics.

A Validated Functional Analysis of PALB2 Missense Variants for Use in Clinical Variant Interpretation

Sarah E. Brnich, J. Berg, X. Tan, 2020, bioRxiv.

Long-term risk of medical conditions associated with breast cancer treatment

L. Strong, J. Berg, C. Isaacs, 2014, Breast Cancer Research and Treatment.

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

J. Berg, C. Powell, C. Rini, 2020, Maternal and Child Health Journal.

Values clarification and parental decision making about newborn genomic sequencing.

J. Berg, D. Bailey, C. Powell, 2019, Health psychology : official journal of the Division of Health Psychology, American Psychological Association.

“Possibly positive or certainly uncertain?”: Participants’ responses to uncertain diagnostic results from exome sequencing

G. Henderson, James P Evans, J. Berg, 2017, Genetics in Medicine.

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

G. Henderson, James P Evans, J. Berg, 2018, Genetics in Medicine.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, Ankita Patel, 2010 .

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.

P. Sullivan, James P Evans, J. Berg, 2018, The American journal of psychiatry.

Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction

P. Mieczkowski, J. Berg, K. Wilhelmsen, 2021, Prenatal diagnosis.

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Marina T. DiStefano, H. Rehm, E. Thorland, 2021, Human mutation.

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

Jeffrey W. Pennington, I. Krantz, K. Goddard, 2018, Genetics in Medicine.

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

S. Kingsmore, S. Brenner, J. Berg, 2019, NPJ genomic medicine.

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

S. Kingsmore, S. Brenner, J. Berg, 2019, npj Genomic Medicine.

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

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

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

Tamara S. Roman, J. Berg, Julianne M. O’Daniel, 2021, Trials.

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

Yaping Yang, Katrina A B Goddard, Kathryn M Porter, 2018, Molecular genetics & genomic medicine.

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

P. Stankiewicz, S. Rosengren, E. Roeder, 2008, Nature Genetics.

Which came first: validity or clinical testing? The example of long QT genes

J. Berg, Julianne M. O’Daniel, A. K. Foreman, 2018 .

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation

G. Henderson, R. J. Cadigan, J. Berg, 2022, Journal of personalized medicine.

Newborn screening for neurodevelopmental diseases: Are we there yet?

S. Brenner, Yufeng Shen, J. Berg, 2022, American journal of medical genetics. Part C, Seminars in medical genetics.

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

J. Berg, Julianne M. O’Daniel, C. Powell, 2021, Genome medicine.

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

H. Rehm, J. Berg, S. Plon, 2018, Human Mutation.

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

Chris Bizon, Jonathan S Berg, Alexandra Arreola, 2018, PloS one.

Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients

Donna B. Gilleskie, J. Berg, Michael C. Adams, 2022, Genetics in Medicine.

Development and initial testing of a multi-stakeholder intervention for Lynch syndrome cascade screening: an intervention mapping approach

J. Berg, J. Leeman, Megan C. Roberts, 2022, BMC Health Services Research.

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.

R. Finkel, J. Berg, P. Kang, 2019, Human molecular genetics.

Myosin-I nomenclature

J. R. Holt, A. Hudspeth, T. Pollard, 2001, The Journal of cell biology.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

S. Brenner, H. Rehm, P. Radivojac, 2022, American journal of human genetics.

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

Christian R. Tilley, E. Lange, J. Berg, 2017, The Journal of heart valve disease.

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

D. Hayes, J. Parker, E. Papaemmanuil, 2018, Clinical Cancer Research.

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

J. Berg, A. Sokac, W. Bement, 2004, Nature.

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

J. Berg, D. Bailey, C. Powell, 2018, Trials.

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

J. Berg, C. Powell, 2015, Cold Spring Harbor perspectives in medicine.

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

J. Berg, N. Strande, 2016, Annual review of genomics and human genetics.

Diagnostic yield : the rate at which a particular diagnostic test establishes a molecular diagnosis in a population of patients INTRODUCTION

P. Gregersen, D. Roden, J. Berg, 2016 .

The gender medicine team: "it takes a village".

J. Berg, V. Sutton, L. Mccullough, 2009, Advances in pediatrics.

Genomic Knowledge in the Context of Diagnostic Exome Sequencing: Changes over Time, Persistent Subgroup Differences, and Associations with Psychological Sequencing Outcomes

G. Henderson, J. Berg, Julianne M. O’Daniel, 2019, Genetics in Medicine.

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Christian R. Tilley, J. Berg, Michael C. Adams, 2018, Neurology: Genetics.

Imprinted Genes That Regulate Early Mammalian Growth Are Coexpressed in Somatic Stem Cells

J. Berg, Nathan C Boles, R. Daly, 2011, PloS one.

Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

J. Berg, C. Bacino, L. Potocki, 2010, American journal of medical genetics. Part A.

A Validated Functional Analysis of PALB2 (Partner and Localizer of BRCA2) Missense Variants for Use in Clinical Variant Interpretation.

Sarah E. Brnich, J. Berg, X. Tan, 2021, The Journal of molecular diagnostics : JMD.

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

K. Gunderson, Ankita Patel, J. Lupski, 2007, Genetics in Medicine.

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

Jonathan Berg, Ankita Patel, Z. Ou, 2008, American journal of human genetics.

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

Z. Ou, E. Roeder, V. Enciso, 2008, Genetics in Medicine.

Dnmt3a and Dnmt3b have overlapping and distinct functions in hematopoietic stem cells.

Wei Li, J. Berg, Zheng Xia, 2014, Cell stem cell.

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

J. Berg, H. Omran, C. Bizon, 2011, Genetics in Medicine.

A millennial myosin census.

J. Berg, B. Powell, J S Berg, 2001, Molecular biology of the cell.

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

Lea M. Starita, Fergus J. Couch, Jonathan S. Berg, 2019, Genome Medicine.

The progression of the ClinGen gene clinical validity classification over time

J. Berg, C. Thaxton, J. Goldstein, 2018, Human mutation.

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

P. Stankiewicz, J. Wiszniewska, M. L. Cooper, 2011, Human molecular genetics.

A Systematic Review of the Methodological Quality of Economic Evaluations in Genetic Screening and Testing for Monogenic Disorders

J. Berg, K. Hassmiller Lich, Kate M. Saylor, 2021, medRxiv.

Prenatal Exome Sequencing in Anomalous Fetuses: New Opportunities and Challenges

J. Berg, D. Skinner, C. Bizon, 2017, Genetics in Medicine.

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

Jonathan S. Berg, James P. Evans, Karen E. Weck, 2018, Cold Spring Harbor molecular case studies.

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

Birgit Funke, William Craigen, Heidi L Rehm, 2018, Human mutation.

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

Sheri D Schully, Katrina A B Goddard, Alan F Scott, 2016, Genetics in Medicine.

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

J. Berg, Julianne M. O’Daniel, Kristy Lee, 2015, Genetics in Medicine.

Dnmt 3 a is essential for hematopoietic stem cell differentiation

J. Berg, J. Issa, J. Jelinek, 2013 .

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

B. Fernandez, P. Stankiewicz, J. Lupski, 2007, Human Genetics.

The Promise and Peril of Genomic Screening in the General Population

G. Henderson, J. Berg, Michael C. Adams, 2015, Genetics in Medicine.

Newborn Sequencing in Genomic Medicine and Public Health

Tiina K. Urv, N. Risch, P. Kwok, 2017, Pediatrics.

Whole Genome Sequencing in the Molecular Pathology Laboratory

J. Berg, G. Haskell, Gloria T. Haskell, 2017 .

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

N. Risch, P. Kwok, S. Fullerton, 2018, American journal of human genetics.

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

J. Berg, R. Furberg, D. Bailey, 2016, Pediatrics.

Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice

J. Berg, M. Roche, 2015, Current Genetic Medicine Reports.

Generating a taxonomy for genetic conditions relevant to reproductive planning

Diane M. Korngiebel, K. Goddard, B. Wilfond, 2016, American journal of medical genetics. Part A.

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

Tamara S. Roman, J. Berg, Julianne M. O’Daniel, 2020, American journal of human genetics.

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

N. Spinner, K. Ormond, J. Belmont, 2015, American Journal of Human Genetics.

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

Selecting secondary findings to report: Creating a list that suits your study

Jonathan S. Berg, Ann Katherine M. Foreman, J. Berg, 2020 .

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

D. Nickerson, M. Dorschner, K. Goddard, 2017, Genetics in Medicine.

Genomic Screening of the General Adult Population: Key Concepts for Assessing Net Benefit with Systematic Evidence Reviews

G. Henderson, J. Berg, D. Jonas, 2014, Genetics in Medicine.

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

Lisle E. Mose, D. Hayes, J. Parker, 2016, Clinical Cancer Research.

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

N. Spinner, H. Rehm, K. Goddard, 2018, Genetics in Medicine.

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

Jonathan S Berg, Sarah E. Brnich, J. Berg, 2018, Human mutation.

Look before you leap: genomic screening in obstetrics and gynecology.

J. Berg, Michael C. Adams, N. Vora, 2015, Obstetrics and Gynecology.

Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value.

J. Berg, 2014, JAMA.

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Jay Shendure, Hannah Gelman, Jennifer N. Dines, 2019, Genome Medicine.

How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing?

J. Roberts, G. Henderson, J. Berg, 2015, Journal of Genetic Counseling.

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

Jonathan S Berg, James P Evans, J. Berg, 2011, JAMA.

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

J. Berg, Julianne M. O’Daniel, C. Powell, 2019, The Journal of pediatrics.

Genetic screening: birthright or earned with age?

J. Berg, Lonna Mollison, 2017, Expert review of molecular diagnostics.

hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

M. Caron, J. Berg, H. Kliman, 2018, The Journal of experimental medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2022, Genome Medicine.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

Diane B. Zastrow, Helio A. Costa, Marina T. DiStefano, 2021, medRxiv.

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Sarah E. Brnich, Tamara S. Roman, J. Berg, 2018, Genetics in Medicine.

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

Elizabeth M Webber, Elizabeth M. Webber, Jennifer S. Lin, 2013, Genetics in Medicine.

Parents’ perceptions of personal utility of exome sequencing results

G. Henderson, J. Berg, Julianne M. O’Daniel, 2019, Genetics in Medicine.

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

Bradford C. Powell, Jonathan S. Berg, Chris Bizon, 2019, Genome Medicine.

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

Christian R. Tilley, J. Berg, K. Wilhelmsen, 2017, Circulation. Cardiovascular genetics.

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

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Treatment-resistant psychotic symptoms and the 15q11.2 BP1–BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature

P. Sullivan, J. Berg, J. Crowley, 2020, Translational Psychiatry.

GENOMIC SEQUENCE SEARCHES AND PHYLOGENETIC TREES

J. Berg, B. Powell, R. Cheney, 2001 .

Myosin-X, a novel myosin with pleckstrin homology domains, associates with regions of dynamic actin.

D. Corey, J. Berg, R. Cheney, 2000, Journal of cell science.

Identifying Gene Disruptions in Novel Balanced de novo Constitutional Translocations in Childhood Cancer Patients by Whole Genome Sequencing

Caleb F. Davis, R. Gibbs, D. Wheeler, 2014, Genetics in Medicine.

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

J. Berg, Julianne M. O’Daniel, 2016, Genome Medicine.

Recommendations from the EGAPP Working Group: does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?

Marc S. Williams, S. Pauker, A. Janssens, 2013, Genetics in Medicine.

The EGAPP initiative: lessons learned

Marc S. Williams, S. Pauker, A. Janssens, 2013, Genetics in Medicine.

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

Kimberly Robasky, Bradford C. Powell, Yun Li, 2021, BMC Bioinformatics.

The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey

R. J. Cadigan, J. Berg, Julianne M. O’Daniel, 2022, Physical & occupational therapy in pediatrics.

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

J. Berg, C. Bizon, Kristy Lee, 2015, American journal of ophthalmology.

Finding the Rare Pathogenic Variants in a Human Genome.

Jonathan S Berg, James P Evans, J. Berg, 2017, JAMA.

Genetics and Heart Failure: A Concise Guide for the Clinician

J. Berg, B. Jensen, C. Skrzynia, 2014, Current cardiology reviews.

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

Heidi L. Rehm, Danielle R. Azzariti, Erin M. Ramos, 2018, Genetics in Medicine.

Myosin-X is an unconventional myosin that undergoes intrafilopodial motility

J. Berg, R. Cheney, 2002, Nature Cell Biology.

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

Kathleen F. Mittendorf, Marc S. Williams, K. Goddard, 2019, Genetics in Medicine.

Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.

G. Henderson, J. Berg, Julianne M. O’Daniel, 2021, Patient education and counseling.

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

G. Henderson, J. Berg, Julianne M. O’Daniel, 2017, Genetics in Medicine.

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

G. Henderson, J. Berg, Julianne M. O’Daniel, 2018, Public Health Genomics.

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome

P. Sullivan, J. Berg, J. Crowley, 2020, Schizophrenia Research.

Comparative sequence analysis and tissue localization of members of the SLC6 family of transporters in adult Drosophila melanogaster

J. Berg, A. E. Stuart, M. Thimgan, 2006, Journal of Experimental Biology.

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

J. Berg, K. Wilhelmsen, Phillips Owen, 2020, Genetics in Medicine.

The phenotype of multiple congenital anomalies‐hypotonia‐seizures syndrome 1: Report and review

J. Berg, K. Wilhelmsen, C. Powell, 2015, American journal of medical genetics. Part A.

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

K. Goddard, B. Wilfond, J. Berg, 2016, American journal of medical genetics. Part A.

Tails of unconventional myosins

T. N. Oliver, J. S. Berg, J. Berg, 1999, Cellular and Molecular Life Sciences CMLS.

Lessons learned about harmonizing survey measures for the CSER consortium

K. Goddard, L. Hindorff, A. McGuire, 2020, Journal of clinical and translational science.

Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions

P. Mieczkowski, J. Berg, K. Gilmore, 2020, medRxiv.

Myo10 in brain: developmental regulation, identification of a headless isoform and dynamics in neurons

J. Berg, B. Robertson, R. Cheney, 2006, Journal of Cell Science.

Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial.

R. J. Cadigan, J. Berg, J. Bensen, 2023, Patient education and counseling.

Clinical Genomics: How Much Data is Enough?

Karamarie Fecho, Ashok Krishnamurthy, Stanley C. Ahalt, 2015 .

Parents’ perceptions of personal utility of exome sequencing results

G. Henderson, J. Berg, Julianne M. O’Daniel, 2019, Genetics in Medicine.

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

J. Berg, K. Wilhelmsen, Zheng Fan, 2014, Journal of Neurology.

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

Jeffrey W. Pennington, I. Krantz, K. Goddard, 2018, Genetics in Medicine.

Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?

Jonathan S. Berg, Kenneth Offit, Benjamin Djulbegovic, 2013, Genetics in Medicine.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

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

J. Berg, Julianne M. O’Daniel, C. Rini, 2020, Personalized medicine.

Dnmt 3 a and Dnmt 3 b Have Overlapping and Distinct Functions in Hematopoietic Stem Cells

Wei Li, J. Berg, Zheng Xia, 2014 .

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Alan F. Rubin, Sarah E. Brnich, J. Shendure, 2019, Genome Medicine.

Ethical and legal implications of genetic testing in androgen insensitivity syndrome.

J. Berg, V. Sutton, L. Mccullough, 2007, The Journal of pediatrics.

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

J. Berg, K. Wilhelmsen, Phillips Owen, 2020, Genetics in Medicine.

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

G. Henderson, J. Berg, Julianne M. O’Daniel, 2018, Genetics in Medicine.

Quality of care metrics for patients with inborn errors of metabolism.

J. Berg, Michael C. Adams, Clara C Hildebrandt, 2022, Molecular genetics and metabolism.

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

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

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

Stanley C. Ahalt, Karamarie Fecho, Jonathan Berg, 2016, EGEMS.

US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER).

L. Hindorff, J. Berg, B. Gelb, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Deletion Syndrome : Clinical and Molecular Analysis Using Array CGH

Z. Ou, P. Stankiewicz, S. Cheung, 2010 .

A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.

J. Berg, K. Lich, Kate M. Saylor, 2022, Genetics in Medicine.

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

G. Henderson, R. J. Cadigan, Teresa P. Edwards, 2020, European Journal of Human Genetics.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

Marina T. DiStefano, E. McDonagh, H. Rehm, 2023, medRxiv.

Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.

L. Hindorff, J. Berg, B. Gelb, 2023, Pediatrics.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Dana M. Bis-Brewer, S. Brenner, H. Rehm, 2023, American journal of human genetics.

Uromodulin and CKD: insight into variant pathogenicity.

J. Berg, N. Franceschini, 2023, Kidney international.

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

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Clinically relevant changes in family history of cancer over time.

L. Strong, A. Ziogas, H. Anton-Culver, 2011, Journal of the American Medical Association (JAMA).

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

J. Berg, D. Bailey, C. Powell, 2018, Social science & medicine.

Values clarification exercises improved parental decision making about newborn genomic sequencing

J. Berg, D. Bailey, C. Powell, 2018 .

Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation

J. Berg, L. Milko, 2023, International journal of neonatal screening.

Response to Lindor et al.

Jonathan S. Berg, J. Berg, 2013, Genetics in Medicine.

Assessing the implications of positive genomic screening results

K. Goddard, G. Henderson, R. J. Cadigan, 2020, Personalized medicine.

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

Jonathan S Berg, J. Berg, 2016, Genetics in Medicine.

M94 THE GENOMICS OF HIGHLY TREATMENT RESISTANT SCHIZOPHRENIA

P. Sullivan, J. Berg, J. Crowley, 2019, European Neuropsychopharmacology.

Developmental regulation of sensory neuron number and limb innervation in the mouse.

J. Berg, P. Farel, J. Berg, 2000, Brain research. Developmental brain research.

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

Z. Ou, Ankita Patel, J. Lupski, 2008, American Journal of Human Genetics.

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

G. Henderson, J. Berg, C. Rini, 2019 .

ClinGen--the Clinical Genome Resource.

L. Brooks, D. Ledbetter, S. Sherry, 2015, The New England journal of medicine.

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

Joseph S. Salama, W. Chung, I. Krantz, 2016, American journal of human genetics.

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

N. Spinner, K. Goddard, L. Hindorff, 2018, Genetics in Medicine.

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

J. Berg, K. Wilhelmsen, Phillips Owen, 2020, Genetics in Medicine.

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

Jonathan S. Berg, Sarah E. Brnich, Natasha T. Strande, 2018, Genetics in Medicine.

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

Kathleen F. Mittendorf, Marc S. Williams, K. Goddard, 2019, Genetics in Medicine.

How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing?

G. Henderson, J. Berg, B. Bernhardt, 2015, Journal of Genetic Counseling.

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

N. Spinner, R. Green, L. Garraway, 2014, Genetics in Medicine.

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

J. Berg, J. Evans, 2011, JAMA.