Thomas C Markello

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
    Thomas C Markello
    Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 105:665-71. 2012
  2. pmc Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
    Thomas C Markello
    National Human Genome Research Institute, NIH, Bethesda, MD 20892 1611, USA
    Mol Genet Metab 105:382-9. 2012
  3. pmc PTPRF is disrupted in a patient with syndromic amastia
    Surasawadee Ausavarat
    Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand
    BMC Med Genet 12:46. 2011
  4. pmc Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum
    Thomas C Markello
    NIH Undiagnosed Diseases Program, Office of Rare Disease Research and National Human Genome Research Institute and NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 103:44-50. 2011
  5. pmc NT5E mutations and arterial calcifications
    Cynthia St Hilaire
    National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA
    N Engl J Med 364:432-42. 2011
  6. doi request reprint VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance
    Murat Sincan
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Hum Mutat 33:593-8. 2012
  7. 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
  8. pmc Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis
    Kevin O'Brien
    Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 103:128-34. 2011
  9. pmc Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Invest Dermatol 131:2017-25. 2011
  10. pmc An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays
    Jason L Eccleston
    Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1800, USA
    Mol Genet Metab 107:674-8. 2012

Collaborators

Detail Information

Publications14

  1. pmc Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function
    Thomas C Markello
    Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, MD 20892 1851, USA
    Mol Genet Metab 105:665-71. 2012
    ..We also demonstrate application of the method to novel diseases and mechanisms...
  2. pmc Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering
    Thomas C Markello
    National Human Genome Research Institute, NIH, Bethesda, MD 20892 1611, USA
    Mol Genet Metab 105:382-9. 2012
    ....
  3. pmc PTPRF is disrupted in a patient with syndromic amastia
    Surasawadee Ausavarat
    Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand
    BMC Med Genet 12:46. 2011
    ..1;q13.13). In addition to characterization of her clinical and cytogenetic features, we successfully identified the interrupted gene and studied its consequences...
  4. pmc Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum
    Thomas C Markello
    NIH Undiagnosed Diseases Program, Office of Rare Disease Research and National Human Genome Research Institute and NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 103:44-50. 2011
    ....
  5. pmc NT5E mutations and arterial calcifications
    Cynthia St Hilaire
    National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA
    N Engl J Med 364:432-42. 2011
    ..Arterial calcifications are associated with increased cardiovascular risk, but the genetic basis of this association is unclear...
  6. doi request reprint VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance
    Murat Sincan
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    Hum Mutat 33:593-8. 2012
    ..Moreover, we predict an incremental advancement in software performance as the reference databases, such as Single Nucleotide Polymorphism Database and Human Gene Mutation Database, continue to improve...
  7. 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...
  8. pmc Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis
    Kevin O'Brien
    Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 103:128-34. 2011
    ..There were no significant safety concerns. Other clinical trials are indicated to identify single or multiple drug regimens that may be effective in treatment for progressive HPS-1 pulmonary fibrosis...
  9. pmc Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia
    Andrew R Cullinane
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Invest Dermatol 131:2017-25. 2011
    ....
  10. pmc An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays
    Jason L Eccleston
    Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892 1800, USA
    Mol Genet Metab 107:674-8. 2012
    ..e., distinguishing deleterious genomic alterations from misleading functional polymorphisms. We conclude that novel findings from SNP arrays should be clinically validated and published...
  11. pmc Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1
    Irini Manoli
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Am J Med Genet A 152:1474-83. 2010
    ..Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient...
  12. pmc Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2
    Lisa M Vincent
    Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA
    Mol Genet Metab 101:62-5. 2010
    ..The exact breakpoints of the 47.5-kb deletion were identified as chr15q15-q21.1: g.53332432_53379990del (NCBI Build 37.1); the patient lacks the promoter and 5'UTR regions of RAB27A, thus confirming the diagnosis of GS2...
  13. doi request reprint Genome-scale sequencing to identify genes involved in Mendelian disorders
    Thomas C Markello
    Undiagnosed Diseases Program, National Institutes of Health, Bethesda, Maryland
    Curr Protoc Hum Genet 79:Unit 6.13.. 2013
    ..Future developments will alter the strategies and sequence of using these tools and are also discussed...
  14. pmc Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1
    Farshid N Rouhani
    Pulmonary Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Am J Respir Crit Care Med 180:1114-21. 2009
    ..The etiology of pulmonary fibrosis associated with HPS-1 is unknown...