Thomas C Markello
Affiliation: National Institutes of Health
- Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution functionThomas 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...
- Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filteringThomas C Markello
National Human Genome Research Institute, NIH, Bethesda, MD 20892 1611, USA
Mol Genet Metab 105:382-9. 2012....
- PTPRF is disrupted in a patient with syndromic amastiaSurasawadee 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...
- Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticumThomas 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....
- NT5E mutations and arterial calcificationsCynthia 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...
- VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat 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...
- 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...
- Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaAndrew 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....
- Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosisKevin 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...
- An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arraysJason 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...
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini 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...
- MED23-associated intellectual disability in a non-consanguineous familyAditi Trehan
Office of the Clinical Director, NHGRI NIH, Bethesda, Maryland
Am J Med Genet A 167:1374-80. 2015..They also expand upon the clinical features previously reported for mutations in this gene...
- Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams
Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, MD, USA Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA Electronic address
Mol Genet Metab 113:161-70. 2014..In summary, we present the first clinically-characterized mutation of PCK1 and demonstrate that complex medical disorders can represent the co-occurrence of multiple diseases. ..
- Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam
Medical Genetics and Genomic Medicine Training Program, Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA Electronic address
Mol Genet Metab 115:128-40. 2015..Currently available screening for CDGs will not reliably detect this family of disorders, and our case reaffirms that the use of flow cytometry and genetic testing is essential for diagnosis in this group of disorders...
- Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2Lisa 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...
- Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndromeJessica S Albert
Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA
Orphanet J Rare Dis 10:27. 2015..We hypothesized that the tissue specificity of SRS arises from differential sensitivity to spermidine toxicity or spermine deficiency...
- Genome-scale sequencing to identify genes involved in Mendelian disordersThomas 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...
- Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1Farshid 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...