| P50 | author | Kym M Boycott | Q61638582 |
| | FORGE Canada | Q115667715 |
| P2093 | author name string | Michael T Geraghty | |
| | Martine Tétreault | |
| | David A Dyment | |
| | Alison Hamilton | |
| | Taila Hartley | |
| | Care4Rare Canada Consortium | |
| | Kristin Kernohan | |
| | Ruobing Zou | |
| P2860 | cites work | dbSNP: the NCBI database of genetic variation | Q24608672 |
| | Three-stage quality control strategies for DNA re-sequencing data | Q26864378 |
| | The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 |
| | The Sequence Alignment/Map format and SAMtools | Q27860966 |
| | Fast and accurate long-read alignment with Burrows-Wheeler transform | Q29547193 |
| | Ensembl 2015 | Q29615570 |
| | Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease | Q31154625 |
| | FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project | Q34000906 |
| | Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 |
| | Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. | Q34713545 |
| | Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 |
| | Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 |
| | Exome sequencing can improve diagnosis and alter patient management | Q35641969 |
| | Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia | Q36451472 |
| | Exome sequencing: dual role as a discovery and diagnostic tool | Q37978583 |
| | Rare-disease genetics in the era of next-generation sequencing: discovery to translation | Q38133704 |
| | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | Q38263926 |
| | Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities | Q38470109 |
| | Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions | Q38495799 |
| | Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing | Q40954582 |
| | Exome sequencing as a diagnostic tool for pediatric-onset ataxia | Q43054775 |
| | A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield | Q43754788 |
| | Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy. | Q44413471 |
| | Massively parallel sequencing of ataxia genes after array-based enrichment | Q44486240 |
| | LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues | Q47573616 |
| | The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 |
| | A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases | Q57536768 |
| P433 | issue | 5 | |
| P921 | main subject | patient | Q181600 |
| P304 | page(s) | 504-512 | |
| P577 | publication date | 2016-05-10 | |
| P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
| P1476 | title | Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care | |
| P478 | volume | 4 | |