Christa Lese Martin

Summary

Affiliation: Emory University
Country: USA

Publications

  1. 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
  2. ncbi request reprint Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
    Christa Lese Martin
    Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
    Am J Med Genet B Neuropsychiatr Genet 144:869-76. 2007
  3. 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
  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. ncbi request reprint Genotype/phenotype correlations in two patients with 12q subtelomere deletions
    Dmitriy M Niyazov
    Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033 5207, USA
    Am J Med Genet A 143:2700-5. 2007
  6. 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
  7. doi request reprint Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome
    Joseph F Cubells
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 155:805-10. 2011
  8. 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
  9. 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
  10. 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

Detail Information

Publications18

  1. 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...
  2. ncbi request reprint Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
    Christa Lese Martin
    Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
    Am J Med Genet B Neuropsychiatr Genet 144:869-76. 2007
    ..Further investigations in a larger sample may provide additional information regarding the involvement of this gene in the autistic phenotype...
  3. 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
    ....
  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. ncbi request reprint Genotype/phenotype correlations in two patients with 12q subtelomere deletions
    Dmitriy M Niyazov
    Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033 5207, USA
    Am J Med Genet A 143:2700-5. 2007
    ..In addition, 12q subtelomeric deletions should be considered in the differential diagnosis of patients presenting with food-seeking behavior and resultant obesity, as well as those referred to rule out Prader-Willi syndrome...
  6. 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...
  7. doi request reprint Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome
    Joseph F Cubells
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 155:805-10. 2011
    ..3DS-associated rage outbursts...
  8. 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
    ....
  9. 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...
  10. 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...
  11. ncbi request reprint Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum
    Darrel J Waggoner
    Department of Human Genetics, University of Chicago, IL 60637, USA
    Genet Med 8:379-82. 2006
    ..In a follow-up questionnaire 1/3 of the students reported using the databases presented during class in a clinical setting...
  12. ncbi request reprint NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory
    Darrel J Waggoner
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Genet Med 7:524-33. 2005
    ....
  13. ncbi request reprint 3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
    Corrado Romano
    Unit of Pediatrics and Medical Genetics, Department for Mental Retardation, IRCCS Associazione Oasi Maria Santissima, Troina, Italy
    Eur J Hum Genet 15:1098-101. 2007
  14. 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...
  15. ncbi request reprint Microarray analysis for constitutional cytogenetic abnormalities
    Lisa G Shaffer
    Signature Genomic Laboratories, Spokane, Washington, USA
    Genet Med 9:654-62. 2007
  16. doi request reprint Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome
    Gordana Raca
    State Laboratory of Hygiene, Madison, Wisconsin 53706, USA
    Am J Med Genet A 146:401-4. 2008
  17. doi request reprint Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 146:354-60. 2008
    ..We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3...
  18. pmc Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature
    Christa Lese Martin
    Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, 130 DeSoto Street, Pittsburgh, PA 15261, United States
    Oral Oncol 44:369-82. 2008
    ..The results also emphasize the usefulness of these cell lines as in vitro experimental models and provide important genetic information on these OSCC cell lines that were recently reported in this journal...