Tyler Mark Pierson

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. doi request reprint The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
    William A Gahl
    NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland, USA
    Genet Med 14:51-9. 2012
  2. pmc Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
    Tyler Mark Pierson
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA 20892 3705, USA
    Ann Neurol 64:583-7. 2008
  3. pmc Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man
    Tyler 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
  4. pmc Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
    Tyler 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
  5. pmc Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
    Tyler Mark Pierson
    NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research, Neurogenetics Branch, Bethesda, MD, USA
    Neurology 79:123-6. 2012
  6. doi request reprint 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
  7. pmc Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
    Tyler 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
  8. pmc Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase
    Tyler Mark Pierson
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Mol Genet Metab 108:65-9. 2013
  9. pmc Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings
    Casey Cable
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 102:207-9. 2011

Collaborators

Detail Information

Publications9

  1. doi request reprint The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
    William 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...
  2. pmc Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy
    Tyler 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...
  3. pmc Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man
    Tyler 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...
  4. pmc Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
    Tyler 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...
  5. pmc Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
    Tyler 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...
  6. doi request reprint 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...
  7. pmc Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
    Tyler 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...
  8. pmc Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase
    Tyler 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...
  9. pmc Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: a 5-year follow-up in three affected siblings
    Casey 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...