Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing

(2018) James T. Lu et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Evaluation of copy number variant detection from panel-based next-generation sequencing data

(2018) Ruen Yao et al.   Molecular Genetics & Genomic Medicine

Validation of copy number variation analysis for next-generation sequencing diagnostics

(2017) Jamie M Ellingford et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel

(2017) Jen Bevilacqua et al.   JOURNAL OF GENETICS

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

(2017) Jennifer Kerkhof et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

(2017) Christopher J. Klein et al.   MAYO CLINIC PROCEEDINGS

Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation

(2017) Shashikant Pujar et al.   NUCLEIC ACIDS RESEARCH

A review of craniofacial and dental findings of the RASopathies

(2017) H. Cao et al.   Orthodontics & Craniofacial Research

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies

(2016) Won Kyoung Jhang et al.   PEDIATRIC CARDIOLOGY

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

(2015) Yu Sun et al.   HUMAN MUTATION

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Genetics, Medicine, and the Plain People

(2009) Kevin A. Strauss et al.   Annual Review of Genomics and Human Genetics

Prion mutation D178N with highly variable disease onset and phenotype

(2009) M Synofzik et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY