Jonathan S. Berg
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View article: Mondo: Integrating Disease Terminology Across Communities
Mondo: Integrating Disease Terminology Across Communities Open
Precision medicine aims to enhance diagnosis, treatment, and prognosis by integrating multimodal data at the point of care. However, challenges arise due to the vast number of diseases, differing methods of classification, and conflicting …
View article: Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program Open
Although genomic sequencing presents groundbreaking newborn screening (NBS) opportunities, critical feasibility and utility questions remain. Here we present initial results from the Early Check program-an observational study assessing the…
View article: Medical Multimorbidity in Patients with Treatment-Resistant Psychosis and Rare Copy Number Variants: A Retrospective Case Series of 24 Patients
Medical Multimorbidity in Patients with Treatment-Resistant Psychosis and Rare Copy Number Variants: A Retrospective Case Series of 24 Patients Open
Neurodevelopmental disorder-risk CNVs (NDD CNVs) are associated with complex neuropsychiatric phenotypes. These CNVs also confer risk for a host of medical outcomes in adults yet the long-term health consequences in the context of comorbid…
View article: Age-Based Genomic Screening: Pediatric Providers’ Perspectives on Implementation
Age-Based Genomic Screening: Pediatric Providers’ Perspectives on Implementation Open
Introduction: As genomic technologies and therapies advance, paired with increasing clinical knowledge and declining sequencing cost, the scope of DNA-based preventive pediatric screening is expected to expand. Age-Based Genomic Screening …
View article: Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria Open
At calibrated thresholds, 3 new computational predictors provided evidence for variant pathogenicity at similar strength to the 4 previously recommended predictors (and comparable with functional assays for some variants). This calibration…
View article: Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision-Making Research in Genomic Sequencing
Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision-Making Research in Genomic Sequencing Open
BACKGROUND: This study evaluated the psychometric properties of a new, comprehensive measure of knowledge about genomic sequencing, the University of North Carolina Genomic Knowledge Scale (UNC-GKS). METHODS: The UNC-GKS assesses knowledge…
View article: Obstacles, Opportunities, and Ethical Considerations for Genomic Investigations of Individuals Continuously Hospitalized with Treatment-resistant Schizophrenia
Obstacles, Opportunities, and Ethical Considerations for Genomic Investigations of Individuals Continuously Hospitalized with Treatment-resistant Schizophrenia Open
Background and Hypothesis The overarching objective when studying schizophrenia is the development of generalizable knowledge that improves patient health and/or increases our comprehension of their illness. To fully achieve this objective…
View article: Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice
Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice Open
Introduction: Unequal representation in genetic and genomic research is due to various factors, including historically inequitable and unjust institutional research practices, potential mistrust of biomedical research among underrepresente…
View article: The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships Open
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need…
View article: The Path to Genomic Screening—Far From Simple, but the Journey Has Begun
The Path to Genomic Screening—Far From Simple, but the Journey Has Begun Open
Today’s genomic technology introduces a multitude of assays that could be deployed in health care: diagnostic testing of patients with suspected monogenic conditions, polygenic risk prediction for common diseases, pharmacogenomic analysis …
View article: Correction: Foss et al. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. J. Pers. Med. 2022, 12, 692
Correction: Foss et al. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. J. Pers. Med. 2022, 12, 692 Open
There was an error in the original publication [...].
View article: Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease
Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease Open
Schizophrenia usually emerges in late adolescence or early adulthood (1, 2). If cognitive deterioration occurs, it generally appears early and with relatively stable impairment over the next 5–10 years. Later in the illness, psychotic symp…
View article: hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia Open
We report the first case of nonimmune hydrops fetalis (NIHF) associated with a recessive, in-frame deletion of V205 in the G protein-coupled receptor, Calcitonin Receptor-Like Receptor (hCALCRL). Homozygosity results in fetal demise from h…
View article: The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation
The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation Open
PURPOSE: Advances in clinical genomic sequencing capabilities, including reduced costs and knowledge gains, have bolstered the consideration of genomic screening in healthy adult populations. Yet, little is known about the existing landsca…
View article: Community Collaboration in Public Health Genetic Literacy: Co-Designing Educational Resources for Equitable Genomics Research and Practice
Community Collaboration in Public Health Genetic Literacy: Co-Designing Educational Resources for Equitable Genomics Research and Practice Open
Introduction Unequal representation in genetic and genomic research is due to various factors including historically inequitable and unjust institutional research practices, potential mistrust of biomedical research among underrepresented …