P199: Neurocognitive profile of ODLURO syndrome: Emergent overlapping trends across KMT2 disorders by Rowena Ng, Jacqueline Harris, Anne O'Donnell-Luria

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Search for a genetic cause of variably protease-sensitive prionopathy. by Yuan Lian, Keisi Kotobelli, Stacey Hall, Michael E Talkowski, Anne O'Donnell-Luria, Sonia Minikel Vallabh, Brian S Appleby, Eric Vallabh Minikel

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Feasibility and clinical utility of daytime polysomnography performed in NICU to diagnose sleep disordered breathing in infants by Andrew Wilson, Max K Bulsara, Shripada Rao, Gareth Baynam, Anne O’Donnell, Karen Waters, Catherine Dunstan, Dimple Goel, Chloe Lappin, Rhiannon Plavsic, Tracey Verstandig, Kellie Francis

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Expectations for papers performing Mendelian randomization analyses by Scott M. Williams, Hua Tang, Gregory M. Cooper, Anne O’Donnell-Luria, Santhosh Girirajan, Aimée M. Dudley, Anne Goriely, Zoltán Kutalik, Xiaofeng Zhu, Giorgio Sirugo, Michael P. Epstein

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Expectations for papers performing Mendelian randomization analyses. by Scott M Williams, Hua Tang, Gregory M Cooper, Anne O'Donnell-Luria, Santhosh Girirajan, Aimée M Dudley, Anne Goriely, Zoltán Kutalik, Xiaofeng Zhu, Giorgio Sirugo, Michael P Epstein

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P579: Multidimensional utility of genomic autopsy for infant mortality by Monica Wojcik, Casie Genetti, Malika Sud, Jill Madden, Kathleen Garvey, Ikeoluwa Osei-Owusu, Nicole Groussis, Sundos Al-Husayni, Pankaj Agrawal, Richard Goldstein, Heidi Rehm, Anne O'Donnell-Luria, Alan Beggs, Ingrid Holm

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P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis by Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio, Cas Simons, Lynn Pais, Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier, Anne O'Donnell-Luria, Daniel MacArthur, Zornitza Stark, Heidi Rehm, Kaitlin Samocha

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O28: GREGoR: Accelerating genomics for rare diseases by Moez Dawood, Ben Heavner, Marsha Wheeler, Rachel Ungar, Jonathan LoTempio, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica Chong, Emmanuèle Délot, Evan Eichler, Richard Gibbs, James Lupski, Ali Shojaie, Michael Talkowski, Chia-Lin Wei, Matthew Wheeler, Eric Vilain, Fritz Sedlazeck, Danny Miller, Casey Gifford, Susanne May, Heidi Rehm, Anne O'Donnell-Luria, Jennifer Posey, Lisa Chadwick, Michael Bamshad, Stephen Montgomery

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey

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