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1/14/26: Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats |
01/14/2026 - 4:00pm to 5:00pm CST |
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1/21/26: When Sex Chromosomes Modify Monogenic Disease: WDR45‑Related NBIA with Maternal Mosaicism and an XXY Sibling & Review of a Complex Patient with Multiple Genetic Findings |
01/21/2026 - 4:00pm to 5:00pm CST |
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2/4/26: Recurrent Fevers and Uncertain Variants: Navigating Immunology Genetics in a Pediatric Patient & NF1 or Not so Fast: Missing Features, Managing Uncertainty & Unmasking Mosaicism (?) |
02/04/2026 - 4:00pm to 5:00pm CST |
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2/11/26: Once Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial |
02/11/2026 - 4:00pm to 5:00pm CST |
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2/18/26: Providing Diagnostic Clarity for a Kidney Transplant Recipient & Genetic Testing and Counseling Considerations Following VUS Reclassification in Dilated Cardiomyopathy |
02/18/2026 - 4:00pm to 5:00pm CST |
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2/25/26: The Utilization of Sepiapterin to Potentially Lower Phenylalanine Levels and Increase Protein Tolerance in Individuals with PKU/Clinical & Ethical Considerations of NEXN Variants in the Prenatal Setting: Recurrent Pregnancy Loss and Duty to Warn |
02/25/2026 - 4:00pm to 5:00pm CST |
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3/4/26: Implications of Revisiting Past Test Results: "Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy" |
03/04/2026 - 4:00pm to 5:00pm CST |
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Genetics and Metabolism Case Conference and Journal Club (2026) - Planning Committee Disclosure |
02/28/2027 - 11:00pm to 11:59pm CST |