James C Mullikin

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Exome sequencing: the sweet spot before whole genomes
    Jamie K Teer
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Bethesda, MD 20892, USA
    Hum Mol Genet 19:R145-51. 2010
  2. pmc Exome sequencing: the expert view
    Leslie G Biesecker
    Genetic Disease Research Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Genome Biol 12:128. 2011
  3. pmc Construction, alignment and analysis of twelve framework physical maps that represent the ten genome types of the genus Oryza
    Hyeran Kim
    Arizona Genomics Institute, Department of Plant Sciences, University of Arizona, Tucson, Arizona 85721, USA
    Genome Biol 9:R45. 2008
  4. pmc The cnidarian-bilaterian ancestor possessed at least 56 homeoboxes: evidence from the starlet sea anemone, Nematostella vectensis
    Joseph F Ryan
    Bioinformatics Program, Boston University, Cummington Street, Boston, MA 02215, USA
    Genome Biol 7:R64. 2006
  5. pmc Nuclear receptors from the ctenophore Mnemiopsis leidyi lack a zinc-finger DNA-binding domain: lineage-specific loss or ancestral condition in the emergence of the nuclear receptor superfamily?
    Adam M Reitzel
    Biology Department, Woods Hole Oceanographic Institution, Woods Hole, MA, USA
    Evodevo 2:3. 2011
  6. pmc Genomic insights into Wnt signaling in an early diverging metazoan, the ctenophore Mnemiopsis leidyi
    Kevin Pang
    Kewalo Marine Laboratory, Pacific Biosciences Research Center, University of Hawaii at Manoa, Honolulu, HI, USA
    Evodevo 1:10. 2010
  7. pmc The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa
    Joseph F Ryan
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Evodevo 1:9. 2010
  8. pmc Light whole genome sequence for SNP discovery across domestic cat breeds
    James C Mullikin
    Genome Technology Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    BMC Genomics 11:406. 2010
  9. 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
  10. pmc Using exome data to identify malignant hyperthermia susceptibility mutations
    Stephen G Gonsalves
    Research Associate, Clinical Specialty Consultant, Staff Scientist, Branch Chief, Genetic Disease Research Branch, Director, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute NHGRI, National Institutes of Health, Bethesda, Maryland Research Associate, Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom Postdoctoral Fellow, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health Current position Assistant Member, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida Members of the National Institutes of Health Intramural Sequencing Center group are listed in the appendix
    Anesthesiology 119:1043-53. 2013

Detail Information

Publications50

  1. pmc Exome sequencing: the sweet spot before whole genomes
    Jamie K Teer
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 5625 Fishers Lane, Bethesda, MD 20892, USA
    Hum Mol Genet 19:R145-51. 2010
    ..In this review, we briefly describe some of the methodologies currently used for genomic and exome capture and highlight recent applications of this technology...
  2. pmc Exome sequencing: the expert view
    Leslie G Biesecker
    Genetic Disease Research Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Genome Biol 12:128. 2011
    ..Leslie G Biesecker (LGB), Jim C Mullikin (JM) and Kevin V Shianna (KVS) discuss the reasons for the popularity of exome sequencing and its contribution to genomics...
  3. pmc Construction, alignment and analysis of twelve framework physical maps that represent the ten genome types of the genus Oryza
    Hyeran Kim
    Arizona Genomics Institute, Department of Plant Sciences, University of Arizona, Tucson, Arizona 85721, USA
    Genome Biol 9:R45. 2008
    ..sativa ssp. japonica reference genome sequence. Over 932 Mb of end sequence was analyzed for repeats, simple sequence repeats, miRNA and single nucleotide variations, providing the most extensive analysis of Oryza sequence to date...
  4. pmc The cnidarian-bilaterian ancestor possessed at least 56 homeoboxes: evidence from the starlet sea anemone, Nematostella vectensis
    Joseph F Ryan
    Bioinformatics Program, Boston University, Cummington Street, Boston, MA 02215, USA
    Genome Biol 7:R64. 2006
    ..The origin of particular homeobox genes may, therefore, be associated with the evolution of particular animal traits. Here we report the first near-complete set of homeodomains from a basal (diploblastic) animal...
  5. pmc Nuclear receptors from the ctenophore Mnemiopsis leidyi lack a zinc-finger DNA-binding domain: lineage-specific loss or ancestral condition in the emergence of the nuclear receptor superfamily?
    Adam M Reitzel
    Biology Department, Woods Hole Oceanographic Institution, Woods Hole, MA, USA
    Evodevo 2:3. 2011
    ..In addition, to gain insight into conserved or novel functions, we examined NR expression during ctenophore development...
  6. pmc Genomic insights into Wnt signaling in an early diverging metazoan, the ctenophore Mnemiopsis leidyi
    Kevin Pang
    Kewalo Marine Laboratory, Pacific Biosciences Research Center, University of Hawaii at Manoa, Honolulu, HI, USA
    Evodevo 1:10. 2010
    ..Genomic data from ctenophores could be particularly relevant, as ctenophores have been proposed to be one of the earliest branching metazoan phyla...
  7. pmc The homeodomain complement of the ctenophore Mnemiopsis leidyi suggests that Ctenophora and Porifera diverged prior to the ParaHoxozoa
    Joseph F Ryan
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Evodevo 1:9. 2010
    ..The homeobox superfamily of genes is particularly suited for these kinds of gene content comparisons, since it is large, diverse, and features a highly conserved domain...
  8. pmc Light whole genome sequence for SNP discovery across domestic cat breeds
    James C Mullikin
    Genome Technology Branch and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    BMC Genomics 11:406. 2010
    ..However, to realize this bio-medical potential, a high density single nucleotide polymorphism (SNP) map is required in order to accomplish disease and phenotype association discovery...
  9. 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...
  10. pmc Using exome data to identify malignant hyperthermia susceptibility mutations
    Stephen G Gonsalves
    Research Associate, Clinical Specialty Consultant, Staff Scientist, Branch Chief, Genetic Disease Research Branch, Director, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute NHGRI, National Institutes of Health, Bethesda, Maryland Research Associate, Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom Postdoctoral Fellow, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health Current position Assistant Member, H Lee Moffitt Cancer Center and Research Institute, Tampa, Florida Members of the National Institutes of Health Intramural Sequencing Center group are listed in the appendix
    Anesthesiology 119:1043-53. 2013
    ..An unselected cohort was screened for MHS mutations using exome sequencing. The aim of this study was to pilot a strategy for the RYR1 and CACNA1S genes...
  11. pmc 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...
  12. pmc Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 91:97-108. 2012
    ....
  13. pmc Interpreting secondary cardiac disease variants in an exome cohort
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Circ Cardiovasc Genet 6:337-46. 2013
    ..We have piloted a method to analyze exomes to identify participants at risk for cardiac arrhythmias, cardiomyopathies, or sudden death...
  14. pmc An intermediate grade of finished genomic sequence suitable for comparative analyses
    Robert W Blakesley
    NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 14:2235-44. 2004
    ..Our experience to date demonstrates that comparative-grade sequence finishing represents a practical and affordable option for sequence refinement en route to comparative analyses...
  15. pmc Incidental medical information in whole-exome sequencing
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatrics 129:e1605-11. 2012
    ....
  16. ncbi request reprint Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies
    Nicole A Doria-Rose
    1 Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA 2
    Nature 509:55-62. 2014
    ..These data provide important insights relevant to HIV-1 vaccine development. ..
  17. pmc Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 86:743-8. 2010
    ..We conclude that massively parallel sequencing is useful to characterize large candidate linkage intervals and that it can be used successfully to allow identification of disease-causing gene mutations...
  18. pmc De novo identification of VRC01 class HIV-1-neutralizing antibodies by next-generation sequencing of B-cell transcripts
    Jiang Zhu
    Vaccine Research Center and NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 110:E4088-97. 2013
    ..Bioinformatics analysis can thus directly identify functional HIV-1-neutralizing antibodies of the VRC01 class from a sequenced antibody repertoire. ..
  19. pmc Personalized genomic medicine: lessons from the exome
    Benjamin D Solomon
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 104:189-91. 2011
    ....
  20. 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...
  21. pmc Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
    Matthew G Rees
    National Human Genome Research Institute, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 122:205-17. 2012
    ..In sum, this study utilizes computational, cell biological, and biochemical methods to present a model for interpreting the clinical significance of rare genetic variants in common disease...
  22. pmc Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
    Jamie K Teer
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 20:1420-31. 2010
    ..We find that these three genomic enrichment methods are highly accurate and practical, with sensitivities comparable to that of 30-fold coverage whole-genome shotgun data...
  23. pmc Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification
    Shurjo K Sen
    National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Am J Hum Genet 95:66-76. 2014
    ..Overall, we present integrative RNA, DNA, and protein evidence implicating TREML4 in coronary artery calcification. Our findings connect multimodal genomics data with a commonly used clinical marker of cardiovascular disease. ..
  24. pmc Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity
    Zélia Ferreira
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
    Genome Biol Evol 5:2512-23. 2013
    ..Overall, chimpanzees and humans do not display similar footprints of selection across the WFDC locus, possibly due to different selective pressures between the two species related to immune response and reproductive biology...
  25. pmc Shimmer: detection of genetic alterations in tumors using next-generation sequence data
    Nancy F Hansen
    Genome Technology Branch, NHGRI NIH, Bethesda, MD 20892 9400, USA
    Bioinformatics 29:1498-503. 2013
    ....
  26. pmc The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine
    Leslie G Biesecker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 19:1665-74. 2009
    ..The early experiences with ClinSeq illustrate how large-scale medical sequencing can be a practical, productive, and critical component of research in genomic medicine...
  27. doi request reprint A scalable and flexible approach for investigating the genomic landscapes of phylogenetic incongruence
    Arjun B Prasad
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States
    Mol Phylogenet Evol 66:1067-74. 2013
    ..Together, these studies demonstrate the utility of PartFinder for investigating the patterns of phylogenetic incongruence...
  28. pmc Reproduction and immunity-driven natural selection in the human WFDC locus
    Zélia Ferreira
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Mol Biol Evol 30:938-50. 2013
    ..This study provides further evidence that the WFDC and SEMG loci have been under strong adaptive pressure within the short timescale of modern humans...
  29. pmc VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer
    Jamie K Teer
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Bioinformatics 28:599-600. 2012
    ..Availability and Implementation: VarSifter is written in Java, and is freely available in source and binary versions, along with a User Guide, at http://research.nhgri.nih.gov/software/VarSifter/...
  30. pmc Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting
    Jamie K Teer
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Genomics 14:253. 2013
    ..It is important to understand the advantages, limitations, and complexity of a given capture method before embarking on a targeted sequencing experiment...
  31. pmc Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A
    Jessica C Price
    Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 8:e63313. 2013
    ..Our findings warrant future studies to determine whether these mutations are driver events that contribute to the pathogenesis of endometrial cancer...
  32. pmc Analysis of DNA sequence variants detected by high-throughput sequencing
    David R Adams
    NIH Undiagnosed Diseases Program, NIH, Bethesda, Maryland, USA
    Hum Mutat 33:599-608. 2012
    ..The article is designed to provide an analytic roadmap for variant analysis, thereby enabling a wide range of researchers and clinical genetics practitioners to perform direct analysis of HTS data for their patients and projects...
  33. pmc Genomic features defining exonic variants that modulate splicing
    Adam Woolfe
    Genomic Functional Analysis Section, National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland 20892, USA
    Genome Biol 11:R20. 2010
    ..In addition, little is known about which computational prediction approaches, such as those involving exonic splicing enhancers and exonic splicing silencers, are most informative...
  34. pmc A new strategy for genome assembly using short sequence reads and reduced representation libraries
    Andrew L Young
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 20:249-56. 2010
    ..melanogaster reference genome (dm3). The ease of assembly and accuracy for comparative genomics suggest that our approach will scale to future mammalian genome-sequencing efforts, saving both time and money without sacrificing quality...
  35. pmc Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome
    Elliott H Margulies
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Genome Res 17:760-74. 2007
    ..Together, these findings demonstrate and quantify how many genomic functional elements await basic molecular characterization...
  36. pmc An initial strategy for the systematic identification of functional elements in the human genome by low-redundancy comparative sequencing
    Elliott H Margulies
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 102:4795-800. 2005
    ....
  37. pmc Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans
    Amy R Bentley
    Center for Research in Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 10:e1004190. 2014
    ....
  38. pmc A mosaic activating mutation in AKT1 associated with the Proteus syndrome
    Marjorie J Lindhurst
    National Human Genome Research Institute, Bethesda, Maryland, USA
    N Engl J Med 365:611-9. 2011
    ..The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state...
  39. pmc Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
    Yohei Kirino
    Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1849, USA
    Proc Natl Acad Sci U S A 110:8134-9. 2013
    ..65; P = 1.8 × 10(-12)). The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis...
  40. pmc Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains
    Jiang Zhu
    Vaccine Research Center, National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 110:6470-5. 2013
    ..Altogether, our findings suggest that phylogenetic matching of heavy and light chains can provide a means to approximate natural pairings...
  41. pmc Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering
    Changsoo Kang
    National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 362:677-85. 2010
    ..Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12...
  42. pmc Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation
    Andre M Pilon
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Blood 118:e139-48. 2011
    ..The EKLF interactome shows very little overlap with the interactomes of GATA1, GATA2, or TAL1, leading to a model in which EKLF directs programs that are independent of those regulated by the GATA factors or TAL1...
  43. pmc Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines
    Shurjo K Sen
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Genomics 15:198. 2014
    ..Here, we used RNA-Seq to study the transcriptomes of matched coronary artery disease cases and controls in the ClinSeq® study, using cell lines as tissue surrogates...
  44. pmc The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution
    Joseph F Ryan
    Genome Technology Branch, Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Science 342:1242592. 2013
    ..These results present a newly supported view of early animal evolution that accounts for major losses and/or gains of sophisticated cell types, including nerve and muscle cells. ..
  45. pmc Multidonor analysis reveals structural elements, genetic determinants, and maturation pathway for HIV-1 neutralization by VRC01-class antibodies
    Tongqing Zhou
    Vaccine Research Center, National Institutes of Health, Bethesda, MD 20892, USA
    Immunity 39:245-58. 2013
    ..Developmental similarities in multiple donors thus reveal the generation of VRC01-class antibodies to be reproducible in principle, thereby providing a framework for attempts to elicit similar antibodies in the general population. ..
  46. pmc Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes
    Matthieu Le Gallo
    Cancer Genetics Branch, National Human Genome Research Institute, US National Institutes of Health NIH, Bethesda, MD, USA
    Nat Genet 44:1310-5. 2012
    ....
  47. pmc Circadian changes in long noncoding RNAs in the pineal gland
    Steven L Coon
    Section on Neuroendocrinology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 109:13319-24. 2012
    ..Organ culture studies indicate that expression of these lncRNAs is regulated by norepinephrine acting through cAMP. These findings point to a dynamic role of lncRNAs in the circadian system...
  48. pmc Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes
    Stephen C J Parker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 8:e1002871. 2012
    ..Such information helps establish a broader mechanistic understanding of the linkage between non-coding genomic variations and the cellular evolution of cancer...
  49. 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...
  50. pmc Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites
    Gregory E Crawford
    Genome Technology Branch and National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 101:992-7. 2004
    ....