My Contributions
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Articles in Refereed Journals
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| Date of Published Journal: |
Jan 2008 |
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| Title of Article: |
Clinical features of three children with novel CFTR mutations. |
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| Description of Article: |
2008 North American Cystic Fibrosis Conference |
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| Research Focus: |
Gene Expression |
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| Date of Published Journal: |
Jan 2008 |
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| Title of Article: |
The role of the F508C mutation in congenital bilateral absence of the vas deferens. |
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| Description of Article: |
Genet Med. 2008:10:910–914. Please call us for reprint. |
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| Date of Published Journal: |
Jan 2007 |
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| Title of Article: |
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. |
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| Description of Article: |
J Mol Diagn. 2007;9:556-560. Please call us for reprint. |
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| Research Focus: |
Diagnostics |
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| Date of Published Journal: |
Aug 2006 |
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| Title of Article: |
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – Implications for newborn screening. |
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| Description of Article: |
Genet Med. 2006;8:557-562 |
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| Research Focus: |
Diagnostics |
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| Date of Published Journal: |
Jan 2006 |
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| Title of Article: |
Identification of a novel combination of cystic fibrosis mutations in an asymptomatic woman following prenatal risk assessment. |
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| Description of Article: |
2006 Annual Meeting of the American College of Medical Genetics |
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| Research Focus: |
Diagnostics |
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| Date of Published Journal: |
Jan 2006 |
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| Title of Article: |
Homozygous CFTR mild mutations detected in CF patients diagnosed at an earlier age. |
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| Description of Article: |
2006 Annual Meeting of the Association for Molecular Pathology |
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| Research Focus: |
Pathology |
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| Date of Published Journal: |
Jan 2005 |
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| Title of Article: |
100% CFTR mutation detection in a group of patients affected with CF using The Ambry Test®: CF AMPLIFIED. |
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| Description of Article: |
2005 North American Cystic Fibrosis Conference |
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| Research Focus: |
Diagnostics |
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| Date of Published Journal: |
Jan 2005 |
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| Title of Article: |
A case study illustrating the benefits of full sequence analysis for diagnosing CF. |
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| Description of Article: |
2005 Annual Meeting of the American College of Medical Genetics |
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| Research Focus: |
Diagnostics |
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| Date of Published Journal: |
Jan 2005 |
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| Title of Article: |
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: Novel mutations |
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| Description of Article: |
J Mol Diag. 2005;7:289-299 |
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| Research Focus: |
Diagnostics |
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| Date of Published Journal: |
Jan 2004 |
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| Title of Article: |
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. |
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| Description of Article: |
Hum Reprod. 2004;19:540-546 |
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| Research Focus: |
DNA Sequencing |
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Posters
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| Title of Poster: |
Clinical features of three children with novel CFTR mutations. |
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| Description of Poster: |
2008 North American Cystic Fibrosis Conference |
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| Research Focus: |
Gene Expression |
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| Title of Poster: |
Identification of a novel combination of cystic fibrosis mutations in an asymptomatic woman following prenatal risk assessment. |
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| Description of Poster: |
2006 Annual Meeting of the American College of Medical Genetics |
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| Research Focus: |
Diagnostics |
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| Title of Poster: |
Homozygous CFTR mild mutations detected in CF patients diagnosed at an earlier age. |
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| Description of Poster: |
2006 Annual Meeting of the Association for Molecular Pathology |
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| Research Focus: |
Pathology |
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| Title of Poster: |
A case study illustrating the benefits of full sequence analysis for diagnosing CF. |
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| Description of Poster: |
2005 Annual Meeting of the American College of Medical Genetics |
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Books
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Presentations Webinars, Speeches, Lectures, Video
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Dissertations and Theses
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Events and Conferences
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| Title of Event: |
Neuroscience |
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| Description of Event: |
Annual Meeting of Neurologists, Neurobiologists, and researchers |
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Neuroscience |
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| Title of Event: |
ASHG - American Society of Human Genetics |
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| Description of Event: |
Annual Meeting of Geneticists and Genetic Counselors |
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| Title of Event: |
DNA Microarrays for DNA Genotyping and Gene Expression Profiling |
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| Description of Event: |
Explore the design, fabrication, and use of DNA microarrays for SNP genotying and gene expression analysis |
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Microarray Technology |
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| Title of Event: |
IMFAR - International Meeting for Autism Research |
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| Description of Event: |
Annual meeting for scientists from around the world to meet and discuss progress and challenges in research of autsim spectrum disorders |
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| Title of Event: |
ACMG - American College of Medical Genetics |
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| Description of Event: |
Annual Meeting for Geneticists and Genetic Counselor |
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Courses Taught
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Other Document Sharing
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