Resultats de la cerca - Annette Feigenbaum

P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family per Kanika Parashar, Kristen Wigby, Annette Feigenbaum, Miguel Del Campo

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P160: Updating gene-disease classifications and inheritance patterns for porphyric disease entities to improve diagnostic accuracy and patient management* per Emily Brown Reeves, William Hankey, Jennifer Goldstein, Annette Feigenbaum, Christina Hung, Elaine Spector, William Craigen

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P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes per Xin (David) Wang, Kelly Kirsten, Meredith Wright, Olivia Kim-McManus, Sophia Ceulemans, Annette Feigenbaum, Hannah Tsai, Jerica Lenberg, Paula Gray, Deepali Shinde, Lucia Guidugli, Mari Tokita

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P546: Assessment of inborn errors of metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework per Matheus Wilke, William Hankey, Joshua Lowry, Justyne Ross, Emily Brown Reeves, Raquel Fernandez, Meredith Weaver, Heather Baudet, Annette Feigenbaum, Christina Hung, Elaine Spector, William Craigen, Jennifer Goldstein

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P687: Variant classification discrepancies in the ACADVL gene per Alexa Dickson, May Flowers, Marcus Miller, Elaine Spector, Gregory Enns, Heather Baudet, Marzia Pasquali, Lemuel Racacho, Kianoush Sadre-Bazzaz, Ting Wen, Melissa Fogarty, Raquel Fernandez, Meredith Weaver, Annette Feigenbaum, Brett Graham, Rong Mao

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P007: PP4 criteria specifications for proximal urea cycle disorders* per Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, Amanda Thomas-Wilson

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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study per Nataliya Yuskiv, Ammar Saad, Beth K. Potter, Sylvia Stockler‐Ipsiroglu, John J. Mitchell, Steven Hawken, Kylie Tingley, Michael Pugliese, Monica Lamoureux, Andrea J. Chow, Jonathan B. Kronick, Kumanan Wilson, Annette Feigenbaum, Sharan Goobie, Michal Inbar‐Feigenberg, Julian Little, Saadet Mercimek‐Andrews, Amy Pender, Chitra Prasad, Andreas Schulze, Yannis Trakadis, Gloria Ho, Hilary Vallance, Valerie Austin, Anthony Vandersteen, Andrea C. Yu, Cheryl Rockman‐Greenberg, Aizeddin A. Mhanni, Pranesh Chakraborty

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P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education per Brandan Schultz, Rebecca Reimers, Ileana Matta, Liana Protopsaltis, Lauren Olsen, Moran Snir, Laura Hayward, Eric Blincow, Corrine Blucher, Jeanne Carroll, Sara Caylor, Thomas Defay, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Christian Hansen, Chris Kunard, YongHyun Kwon, Jennie Le, Jeremy Leipzig, Jerica Lenberg, Yupu Liang, Shyamal Mehtalia, William Mowrey, Hung Nguyen, Danny Oh, Gunter Scharer, Jennifer Schleit, Emilie Simmons, Laurie Smith, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Meredith Wright, Mark Yandell, Stephen Kingsmore

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P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* per Jennifer Schleit, Meredith Wright, Lauren Olsen, Eric Blincow, Sara Caylor, Christina Chambers, Guillermo del Angel, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Kevin Hall, Christian Hansen, Charlotte Hobbs, Mark Kiel, Chad Krilow, Chris Kunard, YongHyun Kwon, Rao Madhavrao, Shyamal Mehtalia, William Mowrey, Jennie Le, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, Danny Oh, Mallory Owen, Liana Protopsaltis, Erica Sanford Kobayashi, Gunter Scharer, Brandon Schultz, Seth Shelnutt, Laurie Smith, Duke Tran, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Aaron Wolen, Mark Yandell, Thomas Defay, Stephen Kingsmore

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