Leslie G Biesecker

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint The multifaceted challenges of Proteus syndrome
    L G Biesecker
    National Human Genome Research Institute, Genetic Diseases Research Branch, National Institutes of Health, Bldg 49, Room 4A80, Bethesda, MD 20892 4472, USA
    JAMA 285:2240-3. 2001
  2. pmc Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Genet 1:e38. 2005
  3. pmc Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
    Jennifer J Johnston
    J Med Genet 44:e59. 2007
  4. ncbi request reprint The clinical atlas of Greig cephalopolysyndactyly syndrome
    Katherine Balk
    National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 146:548-57. 2008
  5. pmc Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project
    Leslie G Biesecker
    Genetic Disease Research Branch and National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 14:393-8. 2012
  6. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011
  7. pmc Incidental variants are critical for genomics
    Leslie G Biesecker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 92:648-51. 2013
  8. 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
  9. pmc Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    Kim M Keppler-Noreuil
    Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
    BMC Med Genet 12:101. 2011
  10. pmc Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
    Tanya M Bardakjian
    Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
    BMC Med Genet 10:137. 2009

Detail Information

Publications109 found, 100 shown here

  1. ncbi request reprint The multifaceted challenges of Proteus syndrome
    L G Biesecker
    National Human Genome Research Institute, Genetic Diseases Research Branch, National Institutes of Health, Bldg 49, Room 4A80, Bethesda, MD 20892 4472, USA
    JAMA 285:2240-3. 2001
    ..Herein, the case of a 5-year-old patient who manifested a number of these complications is presented. Current knowledge about the diagnosis, natural history, etiology, and management of the disorder is reviewed...
  2. pmc Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Genet 1:e38. 2005
    ....
  3. pmc Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
    Jennifer J Johnston
    J Med Genet 44:e59. 2007
    ..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
  4. ncbi request reprint The clinical atlas of Greig cephalopolysyndactyly syndrome
    Katherine Balk
    National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 146:548-57. 2008
    ..This article presents the spectrum of dysmorphic findings in GCPS highlighting some of its key presenting features to familiarize clinicians with the variable expressivity of the condition...
  5. pmc Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project
    Leslie G Biesecker
    Genetic Disease Research Branch and National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 14:393-8. 2012
    ..This article outlines the main biomedical considerations of sequencing technologies and demonstrates some of the early clinical experiences with the technology to enable the debate to stay focused on real-world practicalities...
  6. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011
    ....
  7. pmc Incidental variants are critical for genomics
    Leslie G Biesecker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 92:648-51. 2013
    ..As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine...
  8. 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
    ..b>Leslie G Biesecker (LGB), Jim C Mullikin (JM) and Kevin V Shianna (KVS) discuss the reasons for the popularity of exome ..
  9. pmc Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)
    Kim M Keppler-Noreuil
    Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children s Hospital, Iowa City, IA 52242, USA
    BMC Med Genet 12:101. 2011
    ..The present study represents the largest systematic evaluation for the presence of structural brain malformations and/or progressive changes, which may contribute to these functional problems...
  10. pmc Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
    Tanya M Bardakjian
    Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
    BMC Med Genet 10:137. 2009
    ..Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome...
  11. pmc The Greig cephalopolysyndactyly syndrome
    Leslie G Biesecker
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Orphanet J Rare Dis 3:10. 2008
    ....
  12. pmc Elements of morphology: standard terminology for the hands and feet
    Leslie G Biesecker
    National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 149:93-127. 2009
    ..Here we introduce the anatomy of the hands and feet and define and illustrate the terms that describe the major characteristics of the hands and feet...
  13. ncbi request reprint The end of the beginning of chromosome ends
    Leslie G Biesecker
    National Human Genome Research Institute National Institutes of Health, Genetic Diseases Research Branch, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet 107:263-6. 2002
  14. 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...
  15. ncbi request reprint Polydactyly: how many disorders and how many genes?
    Leslie G Biesecker
    National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Am J Med Genet 112:279-83. 2002
    ..These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc...
  16. ncbi request reprint Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders
    Leslie G Biesecker
    National Institute of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Epileptic Disord 5:235-8. 2003
    ..Several disorders that include hypothalamic hamartomas are reviewed here and the current understanding of the biology of the lesions is summarized...
  17. ncbi request reprint Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations
    L G Biesecker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin Genet 68:320-6. 2005
    ..Lastly, a specific proposal for a system of clinical analysis and archiving of data on human pleiotropic developmental anomaly syndromes is proposed to address these limitations...
  18. ncbi request reprint The challenges of Proteus syndrome: diagnosis and management
    Leslie Biesecker
    National Human Genome Research Institute, Building 49 Room 4A80, Bethesda, MD 20892, USA
    Eur J Hum Genet 14:1151-7. 2006
    ..Effective management requires knowledge of the wide array of manifestations and complications of the disorder and a team approach that includes the geneticist, surgeons, and other specialists...
  19. ncbi request reprint Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia
    L G Biesecker
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet 79:311-8. 1998
    ..Analysis of the clinical data shows that Proteus syndrome is frequently confused with "hemihyperplasia." A distinct subtype of hemihyperplasia is defined that includes static or mildly progressive hemihyperplasia and multiple lipomata...
  20. pmc An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project
    Leslie G Biesecker
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med 8:56. 2010
    ..Here, the background to the project, progress to date, and the practical implementation of the terminology in research reporting is discussed...
  21. ncbi request reprint A maneuver to assess the presence of metacarpal or metatarsal osseous syndactyly: a physical finding useful for the differential diagnosis of polydactyly
    Leslie G Biesecker
    National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 143:1788-9. 2007
  22. pmc What you can learn from one gene: GLI3
    L G Biesecker
    National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892 4472, USA
    J Med Genet 43:465-9. 2006
    ..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems...
  23. pmc Polydactyly: how many disorders and how many genes? 2010 update
    Leslie G Biesecker
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Dev Dyn 240:931-42. 2011
    ..These results show that knowledge of limb patterning genetics is improving rapidly. Soon, we will have a comprehensive toolkit of genes important for limb development, which will lead to regenerative therapies for limb anomalies...
  24. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  25. ncbi request reprint No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome
    Takaya Nakane
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 138:32-4. 2005
    ..We conclude that the "triallelic" model does not explain the incomplete penetrance of MKS...
  26. ncbi request reprint Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 123:236-42. 2003
    ..We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes...
  27. ncbi request reprint Gonadal mosaicism in severe Pallister-Hall syndrome
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet A 124:296-302. 2004
    ..Published 2003 Wiley-Liss, Inc...
  28. 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
    ....
  29. 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...
  30. 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...
  31. pmc Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Hum Mutat 31:1142-54. 2010
    ..Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria...
  32. ncbi request reprint Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients
    Kyle T Kurpinski
    Genetic Diseases Research Branch, National Human Genome Research Institute NIH, Building 49 Room 4C72, Bethesda, MD 20892 4472, USA
    Am J Med Genet A 120:1-4. 2003
    ..We have designated this locus as TARP. This locus was mapped without genotyping any affecteds and demonstrates that rare, lethal disorders can be evaluated by genetic linkage, even when no affected probands are available for study...
  33. ncbi request reprint A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?
    Anne M Slavotinek
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 129:69-72. 2004
    ..The dual midline fusion defects of tetralogy of Fallot and MA suggests that either this patient has a unique syndrome with a distinct genetic etiology or that she has a genetically heterogeneous or variant form of MKS...
  34. ncbi request reprint Mutations in MKKS cause Bardet-Biedl syndrome
    A M Slavotinek
    Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Nat Genet 26:15-6. 2000
    ..Both parents and the maternal grandfather were heterozygous for the deletions. Genotyping with markers from the MKKS region confirmed homozygosity at 20p12 in both affected individuals...
  35. 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...
  36. pmc Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
    Marjorie J Lindhurst
    The National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 44:928-33. 2012
    ..Our findings characterize a distinct overgrowth syndrome, biochemically demonstrate activation of PI3K signaling and thereby identify a rational therapeutic target...
  37. 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...
  38. 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...
  39. pmc Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12
    Guida Landoure
    Service de Neurologie, Centre Hospitalier Universitaire du point G, Bamako, Mali Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland
    Hum Mutat 34:1357-60. 2013
    ....
  40. ncbi request reprint Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases
    Eilis A Boudreau
    Clinical Epilepsy Section and EEG and Sleep Section, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland 20892 1408, USA
    Epilepsia 46:42-7. 2005
    ..However, some patients, particularly those with other findings associated with Pallister-Hall syndrome (PHS), have a more benign course...
  41. pmc Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research
    Flavia M Facio
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genomics 5:45. 2012
    ..Massively-parallel sequencing (MPS) technologies create challenges for informed consent of research participants given the enormous scale of the data and the wide range of potential results...
  42. pmc The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 90:295-300. 2012
    ..We conclude that c.1234C>T in PIGA results in the lethal X-linked phenotype recognized in the reported family...
  43. pmc Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity
    Julie C Sapp
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 12:623-7. 2010
    ..The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome...
  44. ncbi request reprint Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
    D L Stone
    Genetic Diseases Research Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    Nat Genet 25:79-82. 2000
    ..We believe that this is the first description of a human disorder caused by mutations affecting a putative chaperonin molecule...
  45. ncbi request reprint GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
    S Kang
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Nat Genet 15:266-8. 1997
    ..These data implicate mutations in GLI3 as the cause of autosomal dominant PHS, and suggest that frameshift mutations of the GLI3 transcription factor gene can alter the development of multiple organ systems in vertebrates...
  46. pmc Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
    Hakan Ulucan
    Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    BMC Med Genet 9:92. 2008
    ..The phenotype was inherited in an autosomal recessive pattern, with one instance of pseudodominant inheritance...
  47. pmc Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome
    Thomas M Beachkofsky
    Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814, USA
    J Am Acad Dermatol 63:799-804. 2010
    ..Proteus syndrome is a rare overgrowth disorder that almost always affects the skin...
  48. pmc Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia
    Marjorie J Lindhurst
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 103:15927-32. 2006
    ....
  49. ncbi request reprint Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
    David Ng
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 36:411-6. 2004
    ....
  50. ncbi request reprint Genetic and physical mapping of the McKusick-Kaufman syndrome
    D L Stone
    Laboratory of Genetic Disease Research, Laboratory of Gene Transfer and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
    Hum Mol Genet 7:475-81. 1998
    ..Sequencing of jagged1 in two unrelated individuals affected with McKusick-Kaufman syndrome has not revealed any disease-causing mutations...
  51. ncbi request reprint Psychiatric and neuropsychological characterization of Pallister-Hall syndrome
    A Azzam
    National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
    Clin Genet 67:87-92. 2005
    ..This limitation is inherent to the study of behavioral phenotypes in rare disorders. The general issue of psychiatric evaluation of rare genetic syndromes is discussed in light of this negative result...
  52. 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. ..
  53. pmc Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
    Flavia M Facio
    Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Eur J Hum Genet 21:261-5. 2013
    ..It behooves investigators to facilitate participants' desire to learn a range of information from genomic sequencing while promoting realistic expectations for its clinical and personal utility...
  54. ncbi request reprint Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients
    Julie C Sapp
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Am J Med Genet A 143:2944-58. 2007
    ..In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome...
  55. pmc The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling
    Derek E Gildea
    Institute for Biomedical Sciences, George Washington University, Washington, District of Columbia, USA
    FASEB J 25:1596-605. 2011
    ....
  56. ncbi request reprint Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome
    Danielle D Brinckman
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 161:2964-71. 2013
    ..We identify a characteristic neuro-behavioral profile in our cohort comprised of reduced IQ, impaired fine-motor function, and decreased olfaction...
  57. ncbi request reprint Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum
    Kim M Keppler-Noreuil
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 164:1713-33. 2014
    ..While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed...
  58. pmc Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Hum Mutat 34:1242-9. 2013
    ..We present the clinical findings in the patient, comparison of this patient to other patients with ACTB/ACTG1 mutations, and results from actin functional studies that demonstrate novel functional attributes of this mutant protein. ..
  59. 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...
  60. pmc Validation of My Family Health Portrait for six common heritable conditions
    Flavia M Facio
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genet Med 12:370-5. 2010
    ..To assess the ability of My Family Health Portrait to accurately collect family history for six common heritable disorders...
  61. doi request reprint A genomic view of mosaicism and human disease
    Leslie G Biesecker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Rev Genet 14:307-20. 2013
    ..Here, we discuss the clinical and molecular classes of mosaicism, their detection and the biological insights gained from these studies...
  62. ncbi request reprint Coupling genomics and human genetics to delineate basic mechanisms of development
    Leslie G Biesecker
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Genet Med 4:39S-42S. 2002
    ....
  63. 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
    ..By simplifying visualization and analyses of exome-scale sequence variation data, this program will help bring the power and promise of massively-parallel DNA sequencing to a broader group of researchers...
  64. ncbi request reprint Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    David Ng
    Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet 110:308-14. 2002
    ..In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders...
  65. ncbi request reprint Evolution of skin lesions in Proteus syndrome
    James V Twede
    Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814, USA
    J Am Acad Dermatol 52:834-8. 2005
    ..Proteus syndrome is a rare overgrowth disorder that is generally progressive, but the natural history of the skin lesions is not known...
  66. pmc Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance
    Penelope P Feuillan
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    J Clin Endocrinol Metab 96:E528-35. 2011
    ..To study the pathophysiology of obesity in BBS, we compared patients with BBS and body mass index Z-score (BMI-Z)-matched controls...
  67. 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...
  68. ncbi request reprint Medical genetic studies in the Amish: historical perspective
    Clair A Francomano
    Laboratory of Genetics, National Institute on Aging NIH, 333 Cassell Drive, Suite 3000, Baltimore, MD 21224, USA
    Am J Med Genet C Semin Med Genet 121:1-4. 2003
  69. pmc Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group
    Richard R Fabsitz
    Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, Epidemiology Branch, 6701 Rockledge Drive MSC 7935, Bethesda, MD20892, USA
    Circ Cardiovasc Genet 3:574-80. 2010
    ....
  70. pmc A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
    J J Johnston
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA
    Am J Hum Genet 67:814-21. 2000
    ..We conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1...
  71. ncbi request reprint Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review
    A M Slavotinek
    National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet 95:208-15. 2000
    ..We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients...
  72. ncbi request reprint Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources
    R Agarwala
    Inherited Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 4472, USA
    Am J Med Genet 86:156-61. 1999
    ..Am. J. Med. Genet. 86:156-161, 1999. Published 1999 Wiley-Liss, Inc...
  73. ncbi request reprint Gene structure and allelic expression assay of the human GLI3 gene
    S Kang
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Hum Genet 101:154-7. 1997
    ..Such hypotheses will be more readily addressed with the availability of the fine structure of the gene and the allele-expression assay...
  74. ncbi request reprint Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
    A M Slavotinek
    National Human Genome Research Institute, National Institutes of Health, Bldg 49 Room 4B75, 49 Convent Drive, Bethesda, MD 20895, USA
    Hum Genet 110:561-7. 2002
    ..The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families...
  75. ncbi request reprint Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome
    P Feuillan
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    J Pediatr Endocrinol Metab 14:141-9. 2001
    ..We conclude that decreased pituitary GH secretion is common in PHS, and may exist in the absence of other forms of endocrine dysfunction...
  76. ncbi request reprint Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
    M J Rosenberg
    National Human Genome Research Institute, Genetic Disease Research Branch, 49 Convent Drive, Bethesda, MD 20892, USA
    Hum Genet 109:311-8. 2001
    ..Given a detection rate that is similar to prior studies and the large workload imposed by STRPs, we conclude that STRPs are an effective, but impractical, approach to the determination of segmental aneusomy given current technology...
  77. ncbi request reprint Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma
    C M Frattali
    Speech Language Pathology Section, Rehabilitation Medicine Department, W G Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892 1604, USA
    Neurology 57:43-6. 2001
    ..To characterize the cognitive deficits in children with gelastic seizures and hypothalamic hamartoma and investigate the relationship of seizure severity to cognitive abilities...
  78. ncbi request reprint Unfolding the role of chaperones and chaperonins in human disease
    A M Slavotinek
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Trends Genet 17:528-35. 2001
    ....
  79. ncbi request reprint Research participants' attitudes towards the confidentiality of genomic sequence information
    Leila Jamal
    1 Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA 2 Department of Health Policy and Management, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
    Eur J Hum Genet 22:964-8. 2014
    ..These findings suggest that views about confidentiality and data sharing are highly nuanced and are related to the perceived benefits of joining a research study. ..
  80. pmc Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
    Carlo Rinaldi
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 3705, USA
    Am J Hum Genet 91:1095-102. 2012
    ..Our findings expand the spectrum of AIF-related disease and provide insight into the effects of AIFM1 mutations...
  81. ncbi request reprint Anabaptist genealogy database
    Richa Agarwala
    National Center for Biotechnology Information NIH, Building 38A, 8600 Rockville Pike, Bethesda, MD 20894, USA
    Am J Med Genet C Semin Med Genet 121:32-7. 2003
    ..Thus, it is an opportune time to review the construction of AGDB, summarize its usage to date, and speculate on future projects it might stimulate and facilitate...
  82. ncbi request reprint Cutaneous manifestations of proteus syndrome: correlations with general clinical severity
    Diem Nguyen
    Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA
    Arch Dermatol 140:947-53. 2004
    ..Proteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues...
  83. pmc Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans
    Elizabeth Carroll Driver
    Section on Developmental Neuroscience, National Institute on Deafness and Other Communication Disorders, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Neurosci 28:7350-8. 2008
    ..These results suggest that HH signaling plays a key role in the specification, size, and location of the prosensory domain, and therefore of hair cells, within the cochlea...
  84. ncbi request reprint Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases
    Joyce T Turner
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet A 130:111-22. 2004
    ..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
  85. doi request reprint Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism
    Jennifer J Johnston
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
    Am J Med Genet A 164:120-8. 2014
    ..All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism...
  86. pmc A candidate gene for autoimmune myasthenia gravis
    Guida Landoure
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Neurology 79:342-7. 2012
    ..We sought to identify a causative mutation in a previously reported kindred with parental consanguinity and 5 of 10 siblings with adult-onset autoimmune myasthenia gravis...
  87. pmc Motivators for participation in a whole-genome sequencing study: implications for translational genomics research
    Flavia M Facio
    National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA
    Eur J Hum Genet 19:1213-7. 2011
    ....
  88. ncbi request reprint Mutant deoxynucleotide carrier is associated with congenital microcephaly
    Marjorie J Rosenberg
    National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bethesda, Maryland 20892 4472, USA
    Nat Genet 32:175-9. 2002
    ..Our data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth...
  89. pmc GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization
    S H Shin
    National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 96:2880-4. 1999
    ..These data show that GLI3 mutations in humans mimic functional effects of the Drosophila ci gene and correlate with the distinct effects of these mutations on human development...
  90. pmc Next-generation sequencing in the clinic: are we ready?
    Leslie G Biesecker
    Genetic Disease Research Branch, National Human Genome Research Institute, 49 Convent Drive, Room 4A56, Bethesda, Maryland 20892, USA
    Nat Rev Genet 13:818-24. 2012
    ..Here, we ask five experts to give their opinions on whether clinical data should be treated differently from other medical data, given the potential use of these tests, and on the areas that must be developed to improve patient outcome...
  91. pmc Assessment and management of the orthopedic and other complications of Proteus syndrome
    Laura L Tosi
    Division of Orthopaedic Surgery and Sports Medicine, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010 USA Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA
    J Child Orthop 5:319-27. 2011
    ..While PS poses many complex challenges, the focus of the workshop was the management of the asymmetric and disorganized skeletal overgrowth that characterizes this multisystem disorder...
  92. pmc FOS expression in blood as a LDL-independent marker of statin treatment
    Ju Gyeong Kang
    Translational Medicine Branch, Cardiology Section National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Atherosclerosis 212:567-70. 2010
    ..In this pilot study, we hypothesized that blood FOS mRNA levels will be sensitive to statin treatment independent of LDL cholesterol levels...
  93. ncbi request reprint Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes
    E T Rosenthal
    Medical Genetic Branch, NHGRI NIH, Bethesda, MD, USA
    Am J Med Genet 103:106-14. 2001
    ..Providers should explore the underlying issues associated with a parental quest for a diagnosis in order to identify and address specific concerns. Published 2001 Wiley-Liss, Inc...
  94. ncbi request reprint Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI
    S Chang
    Laboratory of Genetic Disease Research and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 7:865-70. 1998
    ....
  95. ncbi request reprint Identification of alternative exons, including a novel exon, in the tyrosine kinase receptor gene Etk2/tyro3 that explain differences in 5' cDNA sequences
    L G Biesecker
    National Institutes of Health, National Center for Human Genome Research, Bethesda, Maryland 20892, USA
    Oncogene 10:2239-42. 1995
    ..The existence of these multiple isoforms may be important for protein processing, translocation, or function...
  96. ncbi request reprint Radiologic manifestations of Proteus syndrome
    Carlos A Jamis-Dow
    Department of Radiology, Georgetown University Hospital, Washington, DC, USA
    Radiographics 24:1051-68. 2004
    ..Although the manifestations of Proteus syndrome are highly variable, accurate diagnosis is possible if standard diagnostic criteria are followed and if disease features are assessed in comparison with those found in similar syndromes...
  97. pmc Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
    Darryl Y Nishimura
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 77:1021-33. 2005
    ..This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies...
  98. ncbi request reprint Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination
    Emma N Hilton
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, UK
    Hum Mol Genet 16:1773-82. 2007
    ..Expression of xtPitx2c was shown to be downregulated when xtBcor was depleted. This identifies a pathway in which xtBcor is required for lateral specification, a process intrinsically linked to correct cardiac septal development...
  99. ncbi request reprint Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer
    Clesson Turner
    Uniformed Services University of the Health Sciences and Walter Reed Army Medical Center, Washington, DC 20814, USA
    Hum Genet 112:303-9. 2003
    ..Thus, for the time being, it must be considered as an intriguing coincidence. Nevertheless, these data serve to demonstrate that de novo mitochondrial-nuclear transfer of nucleic acid is a novel mechanism of human inherited disease...
  100. ncbi request reprint Genetic modifiers in human development and malformation syndromes, including chaperone proteins
    Anne Slavotinek
    Department of Pediatrics, Division of Genetics, Room U585P, UCSF, 533 Parnassus St, San Francisco, CA, USA
    Hum Mol Genet 12:R45-50. 2003
    ....
  101. pmc Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
    Kirk Mykytyn
    Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
    Am J Hum Genet 72:429-37. 2003
    ..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance...