A Health Professional-Centered Approach to Incidental Findings
Classifying the Effects of BRCA1 and BRCA2 Variants on Splicing – A Systematic Study
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
CPAP: Cancer Panel Analysis Pipeline
HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss
Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12
β-Thalassemia Due to Intronic LINE-1 Insertion in the β-Globin Gene ( HBB ): Molecular Mechanisms Underlying Reduced Transcript Levels of the β-GlobinL1 Allele
Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis
Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs
Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity
Characterization of SLC26A9 in Patients with CF-Like Lung Disease
Recurrent HERV-H-Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines
Accurately Identifying Low-Allelic Fraction Variants in Single Samples with Next-Generation Sequencing: Applications in Tumor Subclone Resolution
Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing