P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance by Sanaa Choufani, Rosanna Weksberg

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P369: Acute lymphocytic leukemia in a child with Beckwith Wiedemann syndrome: Coincidence or related to loss of CDKN1C function? by Nicole Martin, Sanaa Choufani, Rosanna Weksberg

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Don’t brush off buccal data heterogeneity by Andrei L. Turinsky, Darci T. Butcher, Sanaa Choufani, Rosanna Weksberg, Michael Brudno

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A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage by Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh, Rosanna Weksberg, Jacek Majewski, Rima Slim

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Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram by Clara L Ortiz-Neira, Jeffrey Traubici, Daneman Alan, Rahim Moineddin, Cheryl Shuman, Rosanna Weksberg, Monica Epelman

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P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus by Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander Dingemans, Juan Dario Ortigoza Escobar, David Koolen, Bert de Vries, Rosanna Weksberg

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Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model by Sarah Jessica Goodman, Teresa Romeo Luperchio, Jacob Ellegood, Eric Chater-Diehl, Jason P. Lerch, Hans Tomas Bjornsson, Rosanna Weksberg

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ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3 by Isabella Lin, Zain Awamleh, Mili Sinvhal, Andrew Wan, Leroy Bondhus, Angela Wei, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda

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P192: Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs, neurodevelopmental assessments, and DNA methylation signature by Bianca Russell, Julia Sloan, Hiroki Nariai, Natasha Ludwig, Abigail Dickinson, Zain Awamleh, Rosanna Weksberg, Isabella Lin, Valerie Arboleda, Wen-Hann Tan

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Assessment of a multisite standardized biospecimen collection protocol for immune phenotyping in neurodevelopmental disorders by Shane Cleary, Grace Teskey, Craig Mathews, Russell J. Sachachar, Robert Nicolson, Rosanna Weksberg, Evdokia Anagnostou, Dawn M. E. Bowdish, Jane A. Foster

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P080: Comprehensive overview and analysis of a longstanding pediatric cancer genetics program by Bailey Gallinger, Yoshiko Nakano, Kimberly Caswell, Harriet Drucker, Alexandria Mansfield, Jonathan Wasserman, Rosanna Weksberg, Rosemarie Venier, Yiming Wang, David Malkin, Anita Villani

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Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation by Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, REACH Biobank and Registry, Bianca E. Russell, Rosanna Weksberg, Valerie A. Arboleda

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Cell lineage-specific genome-wide DNA methylation analysis of patients with paediatric-onset systemic lupus erythematosus by Kit San Yeung, Tsz Leung Lee, Mo Yin Mok, Christopher Chun Yu Mak, Wanling Yang, Patrick Chun Yin Chong, Pamela Pui Wah Lee, Marco Hok Kung Ho, Sanaa Choufani, Chak Sing Lau, Yu Lung Lau, Rosanna Weksberg, Brian Hon Yin Chung

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

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