David H Ledbetter

Summary

Affiliation: Emory University
Country: USA

Publications

  1. ncbi request reprint Cryptic telomere imbalance: a 15-year update
    David H Ledbetter
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA
    Am J Med Genet C Semin Med Genet 145:327-34. 2007
  2. doi request reprint Gene patenting and licensing: the role of academic researchers and advocacy groups
    David H Ledbetter
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 10:314-9. 2008
  3. doi request reprint Issues in genetic testing for ultra-rare diseases: background and introduction
    David H Ledbetter
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Genet Med 10:309-13. 2008
  4. ncbi request reprint Diverse fates of paralogs following segmental duplication of telomeric genes
    Andrew Wong
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Genomics 84:239-47. 2004
  5. doi request reprint Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    Erin L Baldwin
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Genet Med 10:415-29. 2008
  6. ncbi request reprint Autism and cytogenetic abnormalities: solving autism one chromosome at a time
    Christa Lese Martin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Curr Psychiatry Rep 9:141-7. 2007
  7. ncbi request reprint Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing
    Andrew Wong
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 7:264-71. 2005
  8. pmc Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues
    Erin L Baldwin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 82:398-410. 2008
  9. pmc An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
    Erin B Kaminsky
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 13:777-84. 2011
  10. pmc Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    Anthony J Schaeffer
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 74:1168-74. 2004

Detail Information

Publications29

  1. ncbi request reprint Cryptic telomere imbalance: a 15-year update
    David H Ledbetter
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Suite 301, Atlanta, GA 30322, USA
    Am J Med Genet C Semin Med Genet 145:327-34. 2007
    ..Finally, experience with smaller benign variants compared to larger pathogenic imbalances at telomeres serves as a model for approaching whole-genome aCGH in a clinical setting...
  2. doi request reprint Gene patenting and licensing: the role of academic researchers and advocacy groups
    David H Ledbetter
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 10:314-9. 2008
    ....
  3. doi request reprint Issues in genetic testing for ultra-rare diseases: background and introduction
    David H Ledbetter
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Genet Med 10:309-13. 2008
    ..Other articles in this series provide more detailed reports on the significant progress in improving access to quality genetic testing for rare diseases within the last few years...
  4. ncbi request reprint Diverse fates of paralogs following segmental duplication of telomeric genes
    Andrew Wong
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Genomics 84:239-47. 2004
    ..This study shows the importance of paralogous regions in the generation of transcriptional diversity and highlights the significance that large-scale telomeric duplication may play in this process...
  5. doi request reprint Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    Erin L Baldwin
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Genet Med 10:415-29. 2008
    ..We report the design, validation, and clinical utility of an oligonucleotide array which combines genome-wide coverage with targeted enhancement at known clinically relevant regions...
  6. ncbi request reprint Autism and cytogenetic abnormalities: solving autism one chromosome at a time
    Christa Lese Martin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Curr Psychiatry Rep 9:141-7. 2007
    ..Powerful new methods for identifying novel regions of the genome causing or contributing to autism also will be discussed and will start to explain the etiology for some percentage of the remaining 85% to 90% of autism cases...
  7. ncbi request reprint Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing
    Andrew Wong
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 7:264-71. 2005
    ..We have evaluated the use of array-based Comparative Genomic Hybridization (aCGH) as a more efficient tool for identifying telomere rearrangements...
  8. pmc Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues
    Erin L Baldwin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 82:398-410. 2008
    ..Comprehensive analysis of SMCs by aCGH and FISH can distinguish unique-negative from unique-positive cases, determine the precise gene content, and provide information on mechanism of origin, inheritance, and recurrence risk...
  9. pmc An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
    Erin B Kaminsky
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 13:777-84. 2011
    ....
  10. pmc Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    Anthony J Schaeffer
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 74:1168-74. 2004
    ..This retrospective study demonstrates that the DNA-based CGH-array technology overcomes many of the limitations of routine cytogenetic analysis of POC samples while enhancing the detection of fetal chromosome aberrations...
  11. pmc Segmental duplications mediate novel, clinically relevant chromosome rearrangements
    M Katharine Rudd
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Hum Mol Genet 18:2957-62. 2009
    ..Here, we discuss the genetic factors that can modify the phenotypic expression of such gains and losses, which likely play a role in these and other recurrent genomic disorders...
  12. ncbi request reprint The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization
    Christa Lese Martin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 9:566-73. 2007
    ....
  13. ncbi request reprint Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32
    Melissa B Ramocki
    Department of Human Genetics, The University of Chicago, 920 E 58th Street, Chicago, IL 60637, USA
    Eur J Hum Genet 11:527-34. 2003
    ..Unexpectedly, the rearrangement produced in-frame reciprocal fusion transcripts, making genotype-phenotype correlation difficult...
  14. pmc Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting
    Erin Rooney Riggs
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Hum Mutat 34:915-9. 2013
    ..Here, we provide an overview of the conference, with summaries of the topics presented for discussion by over 25 different speakers. Presentations are available online at www.iscaconsortium.org...
  15. pmc The evolutionary origin of human subtelomeric homologies--or where the ends begin
    Christa Lese Martin
    Department of Human Genetics, University of Chicago, 920 East 85th Street, Chicago, IL 60637, USA
    Am J Hum Genet 70:972-84. 2002
    ....
  16. pmc Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
    Yue Luo
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Hum Mol Genet 20:3769-78. 2011
    ..Finally, fine-mapping the smallest subtelomeric rearrangements has narrowed the critical regions for some chromosomal disorders...
  17. pmc Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
    Daniel Moreno-De-Luca
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 87:618-30. 2010
    ..In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only...
  18. doi request reprint Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory
    S Das
    Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
    Genet Med 10:332-6. 2008
    ....
  19. pmc Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
    Andres Moreno-De-Luca
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Med Genet 48:141-4. 2011
    ..Hypoxic-ischaemic injury, long considered the most frequent causative factor, accounts for fewer than 10% of cases, whereas a growing body of evidence suggests that diverse genetic abnormalities likely play a major role...
  20. pmc Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3
    Carlos Cardoso
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Am J Hum Genet 72:918-30. 2003
    ....
  21. ncbi request reprint Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications
    Laura B K Herzing
    Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 11:1707-18. 2002
    ....
  22. doi request reprint Cytogenetic technology--genotype and phenotype
    David H Ledbetter
    N Engl J Med 359:1728-30. 2008
  23. pmc Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    Peter Szatmari
    Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada
    Nat Genet 39:319-28. 2007
    ..Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs...
  24. ncbi request reprint Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females
    Maria Daniela D'Agostino
    Department of Neurology and Neurosurgery, and the Montreal Neurological Institute and Hospital, Quebec, Canada
    Brain 125:2507-22. 2002
    ..This suggests other genetic mechanisms such as mutations in the non-coding regions of the DCX or LIS1 genes, gonadal or somatic mosaicism, and finally mutations of other genes...
  25. ncbi request reprint Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23
    Hirobumi Sugawara
    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Genomics 82:238-44. 2003
    ..We also investigated the frequency of the 4.7-Mb inversion in the general Japanese population and found that the allele frequency for the 8p23 inversion was estimated to be 27%...
  26. ncbi request reprint Mitotic and meiotic instability of a telomere association involving the Y chromosome
    Bing Huang
    Genzyme Genetics, Orange, California 92868, USA
    Am J Med Genet A 129:120-3. 2004
    ..The interstitial telomere sequences at the junction of the telomere association may explain the mitotic and meiotic instability of the association...
  27. pmc Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    Maricela Alarcon
    UCLA Center for Autism Research and Treatment, Semel Institute of Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Am J Hum Genet 82:150-9. 2008
    ..Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures...
  28. ncbi request reprint Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism
    Daniela Bettio
    Cytogenetic Laboratory, Operative Unit of Clinical Investigations, Humanitas Clinical Institute, IRCCS, Rozzano, Milan, Italy
    Am J Med Genet A 146:247-50. 2008
  29. ncbi request reprint Mutation screening and transmission disequilibrium study of ATP10C in autism
    Soo Jeong Kim
    Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, University of Chicago, Chicago, Illinois 60637, USA
    Am J Med Genet 114:137-43. 2002
    ....