Search Results - Annette Feigenbaum
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P160: Updating gene-disease classifications and inheritance patterns for porphyric disease entities to improve diagnostic accuracy and patient management* by Emily Brown Reeves, William Hankey, Jennifer Goldstein, Annette Feigenbaum, Christina Hung, Elaine Spector, William Craigen
Published in Genetics in Medicine Open (2025-01-01)Get full text
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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 by 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
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P546: Assessment of inborn errors of metabolism genes on the Recommended Uniform Screening Panel using the ClinGen Clinical Validity framework by 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
Published in Genetics in Medicine Open (2025-01-01)Get full text
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence by Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum
Published in JIMD Reports (2020-03-01)Get full text
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P687: Variant classification discrepancies in the ACADVL gene by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P007: PP4 criteria specifications for proximal urea cycle disorders* by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study by 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
Published in JIMD Reports (2025-09-01)Get full text
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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada by Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Published in Orphanet Journal of Rare Diseases (2019-03-01)Get full text
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P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education by 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
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* by 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
Published in Genetics in Medicine Open (2024-01-01)Get full text
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