For inquiries and suggestions please contact Zhijie Jiang, PhD, at University of Miami or Klaas Wierenga, MD, at University of Oklahoma College of Medicine
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This tool is designed primarily as an educational resource for health care providers to help them provide quality medical genetic services. This tool should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the user should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation. If our tool assists the user in reaching a diagnosis and publication is being considered, please acknowledge its use by citing Wierenga et al. Genetics in Medicine (2012) doi:10.1038/gim.2012.136.
1. Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) World Wide Web URL: http://www.omim.org.
2. National Center for Biotechnology Information (NCBI), National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/.
3. UCSC Genome Browser. World Wide Web URL: http://genome.ucsc.edu/; contributors to the UCSC Human Genome Browser Project, as listed in: World Wide Web URL: http://genome.ucsc.edu/goldenPath/credits.html#human_credits.
4. The Human Phenotype Ontology, World Wide Web URL: http://www.human-phenotype-ontology.org.
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