Related references
Note: Only part of the references are listed.A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
Isabelle Schrauwen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update
David L. Veenstra et al.
GENETICS IN MEDICINE (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel
C. Alexander Valencia et al.
PLOS ONE (2013)
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
Lauren J. Francey et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2012)
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Robert C. Green et al.
GENETICS IN MEDICINE (2012)
Points to consider in the clinical application of genomic sequencing
GENETICS IN MEDICINE (2012)
Fine-Tiling Array CGH to Improve Diagnostics for α- and β-Thalassemia Rearrangements
Marion Phylipsen et al.
HUMAN MUTATION (2012)
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
James O'Sullivan et al.
JOURNAL OF MEDICAL GENETICS (2012)
Enzyme replacement therapy improves cardiac features and severity of Fabry disease
Manish Motwani et al.
MOLECULAR GENETICS AND METABOLISM (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications
Sivakumar Gowrisankar et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2010)
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Sebastian Koehler et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease
Chantal F. Morell et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2009)
Response to Saul and Moeschler How best to use CGH arrays in the clinical setting
David H. Ledbetter
GENETICS IN MEDICINE (2009)
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2009)
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group
Steven M. Teutsch et al.
GENETICS IN MEDICINE (2009)
Cytogenetic technology - Genotype and phenotype
David H. Ledbetter
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy
Lorenzo Monserrat et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2007)
How doctors think, and how software can help avoid cognitive errors in diagnosis
Michael Segal
ACTA PAEDIATRICA (2007)
Share Paper
