Publications by authors named "Annette 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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Characterization of a novel exonic deletion in the gene causing Morquio A syndrome.
Kathryn DeLong, Annette Feigenbaum, Laura Pollard, Andrew Lay, Timothy Wood

Mol Genet Metab Rep· December 2022

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Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency.
Annette Feigenbaum, Leah Lamale-Smith, Lawrence Weinstein

Mol Genet Metab Rep· December 2022

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Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.
Annette Feigenbaum

Mol Genet Metab Rep· December 2022

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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov, Annette Feigenbaum

Am J Hum Genet· September 2022

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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Mallory J Owen, Sebastien Lefebvre, Christian Hansen, Chris M Kunard, David P Dimmock, Annette Feigenbaum

Nat Commun· July 2022

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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B Wortmann, Anne Jonge Poerink, Annette Feigenbaum

Mol Genet Metab· June 2021

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Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Christina G Tise, Jose Andres Morales, Ariel S Lee, Frances Velez-Bartolomei, Brendan J Floyd, Annette S Feigenbaum

Am J Med Genet A· June 2021

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai

Mol Genet Metab Rep· June 2021

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Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
Mallory J Owen, Jerica Lenberg, Annette Feigenbaum, Jeffrey Gold, Kevin Chau

Cold Spring Harb Mol Case Stud· June 2021

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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Susan Waisbren, Barbara K Burton, Annette Feigenbaum, Laura L Konczal, Joshua Lilienstein

Mol Genet Metab· February 2021

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Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
Jennifer L McGlaughon, Marzia Pasquali, Kathleen Wallace, Justyne Ross, Ozlem Senol-Cosar, Annette Feigenbaum

Mol Genet Metab· April 2020

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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T Geraghty, Jonathan B Kronick, Annette Feigenbaum

Orphanet J Rare Dis· April 2020

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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.
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Annette Feigenbaum

JIMD Rep· March 2020

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Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Stephen F Kingsmore, Nanda Ramchandar, Kiely James, Anna-Kaisa Niemi, Annette Feigenbaum

Cold Spring Harb Mol Case Stud· February 2020

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Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Karen Paik, Matthew A Lines, Pranesh Chakraborty, Sara D Khangura, Maureen Latocki, Annette Feigenbaum

Can J Neurol Sci· November 2019

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Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
George A Diaz, Andreas Schulze, Nicola Longo, William Rhead, Annette Feigenbaum

Mol Genet Metab· August 2019

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Zoheb B Kazi, Ankit K Desai, R Bradley Troxler, David Kronn, Seymour Packman, Annette Feigenbaum

Genet Med· April 2019

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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.
Maria D Karaceper, Sara D Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Annette Feigenbaum

Orphanet J Rare Dis· March 2019

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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Diane B Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Annette Feigenbaum

Hum Mutat· November 2018

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Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.
Charles Q Li, Bruce A Barshop, Annette Feigenbaum, Paritosh C Khanna

J Radiol Case Rep· January 2018

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