Tyler Mark Pierson
Affiliation: National Institutes of Health
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl
NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland, USA
Genet Med 14:51-9. 2012..This report describes the National Institutes of Health Undiagnosed Diseases Program, details the Program's application of genomic technology to establish diagnoses, and details the Program's success rate during its first 2 years...
- Umbilical cord blood transplantation for juvenile metachromatic leukodystrophyTyler Mark Pierson
Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA 20892 3705, USA
Ann Neurol 64:583-7. 2008..To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation...
- Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old manTyler Mark Pierson
NIH Undiagnosed Diseases Program, NIH Office of Rare Disease, Research and NHGRI, Bethesda, MD 20892 3705, USA
Neuromuscul Disord 21:353-5. 2011..Because of the severity of the disorder, many infantile-onset SMARD1 patients do not live past the first decade of life. This report documents the clinical course of a 20-year-old man diagnosed with SMARD1...
- Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesTyler Mark Pierson
NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America
PLoS Genet 7:e1002325. 2011..These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias...
- Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosisTyler Mark Pierson
NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research, Neurogenetics Branch, Bethesda, MD, USA
Neurology 79:123-6. 2012..To utilize high-throughput sequencing to determine the etiology of juvenile-onset neurodegeneration in a 19-year-old woman with progressive motor and cognitive decline...
- Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson
NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA
Neuromuscul Disord 23:483-8. 2013..These findings constitute the first genomic deletion causing EMARDD, expand the clinical phenotype, and provide new insight into the pattern and histology of its muscular pathology...
- Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegenerationTyler Mark Pierson
NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, 35 Convent Drive, Bethesda, MD 20892
Eur J Hum Genet 20:476-9. 2012..The presence of a sural nerve axonal neuropathy had not been previously associated with this disorder and so may extend the phenotype...
- Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidaseTyler Mark Pierson
Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Genet Metab 108:65-9. 2013..These results provide additional insight into juvenile-onset G(M2)-gangliosidoses and further expand the number of β-hexosaminidase mutations associated with motor neuron disease...
- Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblingsCasey Cable
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892, USA
Mol Genet Metab 102:207-9. 2011..Outcomes were a function of disease stage at time of UCBT with alteration of disease course occurring in the first 2 years after UCBT and then subsequent halting of progression and stabilization of symptoms and disease...