Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
The clinical utility of exome and genome sequencing across clinical indications: a systematic review
Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
T Brunet, R Jech, M Brugger, R Kovacs… - Clinical …, 2021 - Wiley Online Library
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …
developmental delay, autism spectrum disorder, and developmental motor abnormalities …
[HTML][HTML] Centers for Mendelian Genomics: A decade of facilitating gene discovery
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …
over the past decade. With increasing availability of exome and genome sequencing, the …
[HTML][HTML] Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes
Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in a
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
Background Inborn errors of immunity have been implicated in causing immune
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …
dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses …
[HTML][HTML] Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
CS Gubbels, GE VanNoy, JA Madden… - Genetics in …, 2020 - Elsevier
Purpose To investigate the impact of rapid-turnaround exome sequencing in critically ill
neonates using phenotype-based subject selection criteria. Methods Intensive care unit …
neonates using phenotype-based subject selection criteria. Methods Intensive care unit …
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
NB Tan, R Stapleton, Z Stark… - Molecular genetics & …, 2020 - Wiley Online Library
Background Our primary aim was to evaluate the systematic reanalysis of singleton exome
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …
sequencing (ES) data for unsolved cases referred for any indication. A secondary objective …
[HTML][HTML] The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children
Multisystem inflammatory syndrome in children (MIS-C) evolves in some pediatric patients
following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas …
following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas …
[HTML][HTML] A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Exome sequencing (ES) has become one of the important diagnostic tools in clinical
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …
genetics with a reported diagnostic rate of 25–58%. Many studies have illustrated the …