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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
A functional assay to classify ZBTB24 missense variants of unknown significance
Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-alpha 2 variome and its related phenotypes
A characterization of postzygotic mutations identified in monozygotic twins
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Further delineation of Malan syndrome
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
IFN-gamma R1 defects: Mutation update and description of the IFNGR1 variation database
Critical points for an accurate human genome analysis
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society
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