Publications by authors named "A Feigenbaum"

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Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.
Nataliya Yuskiv, Ammar Saad, Beth K Potter, Sylvia Stockler-Ipsiroglu, John J Mitchell, Annette Feigenbaum

JIMD Rep· September 2025

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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Stephen F Kingsmore, Meredith Wright, Laurie D Smith, Yupu Liang, William R Mowrey, Annette Feigenbaum

Am J Hum Genet· December 2024

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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Stephen F Kingsmore, Meredith Wright, Lauren Olsen, Brandan Schultz, Liana Protopsaltis, Annette Feigenbaum

Am J Hum Genet· December 2024

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns, Annette Feigenbaum

Mol Genet Metab· November 2023

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Response to Grosse et al.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Annette Feigenbaum

Am J Hum Genet· June 2023

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