The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
Authors
Keywords
-
Journal
Molecular Genetics & Genomic Medicine
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2020-04-27
DOI
10.1002/mgg3.1263
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- PEDIA: prioritization of exome data by image analysis
- (2019) Tzung-Chien Hsieh et al. GENETICS IN MEDICINE
- Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
- (2018) S. Baer et al. CLINICAL GENETICS
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
- (2016) Damian Smedley et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations
- (2016) Patricia Fergelot et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Human Phenotype Ontology in 2017
- (2016) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Expanding the phenotypic spectrum inEP300-related Rubinstein-Taybi syndrome
- (2015) Benjamin D. Solomon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Next-generation diagnostics and disease-gene discovery with the Exomiser
- (2015) Damian Smedley et al. Nature Protocols
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
- (2014) T. Zemojtel et al. Science Translational Medicine
- Further delineation of the SATB2 phenotype
- (2013) Dennis Döcker et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dysmorphology at a distance: results of a web-based diagnostic service
- (2013) S Douzgou et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- Strategies for exome and genome sequence data analysis in disease-gene discovery projects
- (2011) PN Robinson et al. CLINICAL GENETICS
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- (2011) Hossein Najmabadi et al. NATURE
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
- (2009) Jill A. Rosenfeld et al. PLoS One
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd 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 Now