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Human Mutation, ISSN 1059-7794, 05/2019, Volume 40, Issue 5, pp. 619 - 630
Journal Article
Oncogene, ISSN 0950-9232, 04/2014, Volume 33, Issue 17, pp. 2264 - 2272
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1554 - 1563
Purpose: The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary... 
rapid | cost-effectiveness | whole-exome sequencing | clinical utility | implementation | SYSTEM | MODEL | MEDICINE | CHILDREN | INFANTS | GENETICS & HEREDITY | SCIENCE | WHOLE | UTILITY | Pediatrics | Laboratories | Cost control
Journal Article
Stem Cell Research, ISSN 1873-5061, 08/2019, Volume 39, p. 101516
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Flow cytometry | Usage | Diagnosis | Research | Pervasive developmental disorders | Stem cells
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 12/2017, Volume 4, Issue 12, pp. 859 - 864
Objective To characterize the clinical features and neuropathology associated with recessive VAC14 mutations. Methods Whole‐exome sequencing was used to... 
FIG4 | COMPLEX | PROTEIN | PHOSPHATASE | MOUSE | NEURODEGENERATION | PHOSPHATIDYLINOSITOL 3,5-BISPHOSPHATE | NEUROSCIENCES | PI(3,5)P-2 | CLINICAL NEUROLOGY | Medical research | Neuropathology | Genomes | Patients | Children & youth | Proteins | Brain research | Hospitals | Neurodegeneration | Fibroblasts | Population | Muscle pain | Mutation | Cognitive development | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 04/2008, Volume 283, Issue 14, pp. 9465 - 9474
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 12/2019, Volume 27, Issue 12, pp. 1791 - 1799
Diagnostic exome sequencing (ES) can be performed on the proband only (singleton; sES) or with additional samples, often including both biological parents with... 
REANALYSIS | UTILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Laboratories | Costs | Diagnosis
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 10, p. e13242
Journal Article