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    September 2023: Cancer risk management decisions among females - 8 month(s) ago

    After receiving notice of variants related to hereditary cancer risk, patients face decisions in cancer risk management. A team of researchers noticed that, in a survey they previously conducted, some women had undergone unnecessary prophylactic surgery, inconsistent with the guidelines at the time. And so they decided to conduct in-depth interviews with a subset of the original survey with women who had pathogenic or likely pathogenic variants in ATM, CHEK2, and PALB2, in order to understand what affected their decision-making. Deborah Cragun, PhD and MSc, associate professor at the University of South Florida and director of their genetic counseling graduate program, joined GenePod to discuss what the team discovered.

    Source: www.gimjournal.org
    Categories: Hem/Oncs, Latest Headlines
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      TuyaPalMD

      Check out podcast on our recent article, where Debi Cragun talks about our work, including value of using coincidence analysis ! September 2023: Cancer risk management decisions among females https://t.co/PKhQUSAvFX

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    Genetics in Medicine - 1 year(s) ago

    OGDH variants are genetic cause of neurodevelopmental disorderDeficiency or absence of enzymes in the energy-producing tricarboxylic acid cycle (TCA) identified to date lead to severe neurological disorders with signs and symptoms beginning in childhood. In particular, deficiency in a key TCA enzyme, alpha-ketoglutarate dehydrogenase, results in a neurometabolic disorder defined by cognitive…

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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      ELS_Genetics

      How to facilitate genetic testing for individuals at high-risk for hereditary cancers? Offer immediate genetic testing. March Editor’s Choice from @GIMJournal. @CatharineWang @TheACMG https://t.co/JduEQW4MvE https://t.co/Zz858PXVWn

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    Genetics in Medicine - 1 year(s) ago

    22 September 2022 Richard Goldstein, MDDirector, Robert’s Program on Sudden Unexpected Death in Pediatrics, Division of General Pediatrics, Boston Children’s HospitalAssociate Professor of Pediatrics, Harvard Medical School Can you tell us a bit about your research? Genetic Determinants of Sudden Unexpected Death in PediatricsHyun Yong Koh, Alireza Haghighi, Christine Keywan, Ingrid A….

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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      ELS_Genetics

      Genetics in Medicine to publish pre-proofs: peer reviewed, accepted articles are formatted for readability and online ~5 days after acceptance. Providing earlier access to research findings and another reason for authors to publish in @GIMjournal @TheACMG https://t.co/6F00I7bBL8 https://t.co/AeCLVJXcn4

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    Current Issue Table of Contents: Genetics in Medicine - 1 year(s) ago

    Editorial BoardPublished in issue: March 2023100807PDF MastheadPublished in issue: March 2023100809PDF Table of ContentsPublished in issue: March 2023100808PDF ACMG StatementThe designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marwan K….

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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      ELS_Genetics

      RT @TheACMG: The March 2023 issue of @GIMJournal is now available online at https://t.co/dhpMsrlsRn. #genetics #genomics #medicalgenetics #…

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    Genetics in Medicine - 1 year(s) ago

    22 September 2022 Richard Goldstein, MDDirector, Robert’s Program on Sudden Unexpected Death in Pediatrics, Division of General Pediatrics, Boston Children’s HospitalAssociate Professor of Pediatrics, Harvard Medical School Can you tell us a bit about your research? Genetic Determinants of Sudden Unexpected Death in PediatricsHyun Yong Koh, Alireza Haghighi, Christine Keywan, Ingrid A….

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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    • Profile photo of ELS_Genetics
      ELS_Genetics

      Genetics in Medicine to publish pre-proofs: peer reviewed, accepted articles are formatted for readability and online ~5 days after acceptance. Providing earlier access to research findings and another reason for authors to publish in @GIMjournal @TheACMG https://t.co/k5XqZ4Snb4 https://t.co/zw9w4sl09o

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    Genetics in Medicine - 1 year(s) ago

    AUDIO December 2, 2022 December 2022: Standardizing variant annotation One of the…

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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      ELS_Genetics

      Tune into GENEPod the podcast series from Genetics in Medicine to hear the latest developments in genetics and genomics research https://t.co/05aFWG1xTq @GIMJournal @TheACMG https://t.co/SmlImttCKN

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    Home Page: Genetics in Medicine - 1 year(s) ago

    Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal’s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. As genetics and genomics continue to…

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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      ELS_Genetics

      Meet @GIMJournal Section Editor, Dwight Koeberl. Genetics in Medicine welcomes submissions on the results of drug development for #genetic disorders. Learn more and submit your paper: https://t.co/f64hFPRlG4 @TheACMG https://t.co/YzbjmEHqPA

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    Genetics in Medicine - 1 year(s) ago

    AUDIO December 2, 2022 December 2022: Standardizing variant annotation One of the…

    Source: www.gimjournal.org
    Categories: Genetics, Latest Headlines
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    • Profile photo of ELS_Genetics
      ELS_Genetics

      Tune into GENEPod the podcast series from Genetics in Medicine to hear the latest developments in genetics and genomics research https://t.co/kp1hVz8BmL @GIMJournal @TheACMG https://t.co/LG7tPzIFgL

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