Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2022-08-29
DOI
10.1002/humu.24454
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
- (2021) Hope Northrup et al. PEDIATRIC NEUROLOGY
- TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
- (2020) Barbara Ogórek et al. GENETICS IN MEDICINE
- Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
- (2019) Alison M. Treichel et al. GENETICS IN MEDICINE
- Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
- (2019) Krinio Giannikou et al. GENETICS IN MEDICINE
- Somatic mutation: The hidden genetics of brain malformations and focal epilepsies
- (2019) Zimeng Ye et al. EPILEPSY RESEARCH
- mTOR dysregulation and tuberous sclerosis-related epilepsy
- (2018) Paolo Curatolo et al. Expert Review of Neurotherapeutics
- mTOR dysregulation and tuberous sclerosis-related epilepsy
- (2018) Paolo Curatolo et al. Expert Review of Neurotherapeutics
- TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
- (2017) John C. Kingswood et al. Orphanet Journal of Rare Diseases
- The genomic landscape of tuberous sclerosis complex
- (2017) Katie R. Martin et al. Nature Communications
- Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
- (2016) Yuri Uchiyama et al. Scientific Reports
- Neurological and neuropsychiatric aspects of tuberous sclerosis complex
- (2015) Paolo Curatolo et al. LANCET NEUROLOGY
- Genotype/Phenotype Correlations in Tuberous Sclerosis Complex
- (2015) Paolo Curatolo et al. Seminars in Pediatric Neurology
- Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
- (2015) Magdalena E. Tyburczy et al. PLoS Genetics
- Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing
- (2014) Yanming Feng et al. GENETICS IN MEDICINE
- Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)
- (2013) Karin Mayer et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
- (2013) Hope Northrup et al. PEDIATRIC NEUROLOGY
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex
- (2010) Wei Qin et al. HUMAN GENETICS
- Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations
- (2010) Lata Vadlamudi et al. NEW ENGLAND JOURNAL OF MEDICINE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started