Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
- 1 December 2017
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 122 (4), 189-197
- https://doi.org/10.1016/j.ymgme.2017.10.008
Abstract
No abstract availableKeywords
Funding Information
- Genzyme Corporation (Sanofi)
- Valerion Therapeutics
- Shire Pharmaceuticals
- Roche
- Pfizer
- Alexion
- NIH
- FDA
- PCORI
- Genzyme Corporation
- Sanofi Company
- Lysosomal Disease Network (U54NS065768)
- NCATS
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Duke Chancellor's Discovery Program Research Fund
- Bill and Melinda Gates Foundation (50957)
- B57 SAIC-Fredrick Inc. (M11-074)
- Division of Intramural Research
- Ellison Medical Foundation (AG-NS-0441-08)
- National Institute of Mental Health (K01MH098126, R01MH097993, RC2MH089915)
- National Institute of Allergy and Infectious Diseases (1R56AI098588-01A1)
- National Human Genome Research Institute (U01HG007672)
- National Institute of Neurological Disorders and Stroke (U01-NS077303, U01-NS053998, RC2NS070344)
- National Institutes of Health (U01MH105670)
- National Institute of Allergy and Infectious Diseases Center (U19-AI067854, UM1-AI100645)
- National Institute on Aging (P30AG028377)
This publication has 53 references indexed in Scilit:
- Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrumNeuromuscular Disorders, 2015
- Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohortNeuromuscular Disorders, 2015
- The usefulness of whole-exome sequencing in routine clinical practiceGenetics in Medicine, 2014
- Reducing INDEL calling errors in whole genome and exome sequencing dataGenome Medicine, 2014
- Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratoryGenetics in Medicine, 2014
- The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsActa Neuropathologica Communications, 2014
- Current status and new features of the Consensus Coding Sequence databaseNucleic Acids Research, 2013
- Diagnosis of Pompe DiseaseJAMA Neurology, 2013
- Quantifying single nucleotide variant detection sensitivity in exome sequencingBMC Bioinformatics, 2013
- Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn ScreeningThe Journal of Pediatrics, 2011