Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy by Christine I. Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S. Kishnani

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P680: Implementing community engagement to refine education and consent materials for newborn genomic sequencing research by Ana Forsythe, Rebecca Moultrie, Sara Andrews, Mary Beth Boyea, Heidi Cope, Holly Peay

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Adults with lysosomal storage diseases in the undiagnosed diseases network by Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro

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Age of diagnosis for children with chromosome 15q syndromes by Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley

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P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina: Results from Early Check* by Katerina Kucera, Mary Beth Boyea, Brooke Migliore, Veronica Robles, Heidi Cope, Catherine Rehder, Edward Smith, Don Bailey, Holly Peay

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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders by Kee Chan, Zhanzhi Hu, Lynn W. Bush, Heidi Cope, Ingrid A. Holm, Stephen F. Kingsmore, Kevin Wilhelm, Curt Scharfe, Amy Brower

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A humanized Caenorhabditis elegans model of hereditary spastic paraplegia-associated variants in KLC4 by Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, Undiagnosed Diseases Network, G. W. Gant Luxton, Heidi Cope, Queenie K.-G. Tan, Christopher Hopkins, Daniel A. Starr

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Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. by Christina A Markunas, Karen Soldano, Kaitlyn Dunlap, Heidi Cope, Edgar Asiimwe, Jeffrey Stajich, David Enterline, Gerald Grant, Herbert Fuchs, Simon G Gregory, Allison E Ashley-Koch

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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey by Heidi Cope, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, Catherine Rehder, Kristen Deak, Anna Alkelai, Undiagnosed Diseases Network, Eric Vilain, Vandana Shashi

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P514: Preparation to use a genetic risk score to screen newborns for type 1 diabetes risk in Early Check by Heidi Cope, Rebecca Wright, Ana Forsythe, Rebecca Moultrie, Sara Andrews, Samantha Scott, Sa'Nealdra Wiggins, Blythe Crissman, Emily Cheves, Melissa Raspa, Lisa Gehtland, Jennifer Law, Cynthia Powell, Holly Peay

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P563: With great panels comes great responsibility: In pursuit of a well-evidenced age-based genomic screen by Ann Katherine Foreman, Jahnelle Jackson, Laura Milko, Elizabeth Branch, Neal deJong, Heidi Cope, Jessica Hunter, Elizabeth Jalazo, Julianne O'Daniel, Holly Peay, Bradford Powell, Cynthia Powell, Jonathan Berg

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Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study by Holly L. Peay, Angela You Gwaltney, Rebecca Moultrie, Heidi Cope, Beth Lincoln‐ Boyea, Katherine Ackerman Porter, Martin Duparc, Amir A. Alexander, Barbara B. Biesecker, Aminah Isiaq, Jennifer Check, Lisa Gehtland, Donald B. Bailey, Nancy M. P. King

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network by Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily G. Kelley, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi

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