Publications by authors named "Susan Berry"

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The PKU Patient Registry: Development of a patient-driven registry and initial outcomes.
Lauren Youngborg, Christine S Brown, Eileen M Blakely, Olaf Bodamer, Rhonda Connolly, Susan A Berry

Mol Genet Metab· October 2025

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PTP1B deficiency in myeloid cells increases susceptibility to systemic infection by modulating antifungal immunity.
Bethany Allen, Ivy M Dambuza, Susan H Berry, Delyth M Reid, Sam M McVey

mBio· October 2025

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SIMD concerns over federal support changes affecting newborn screening.
Susan Berry, Shibani Kanungo, Erin Cooney

Mol Genet Metab· August 2025

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Corrigendum to "SIMD Concerns Over Federal Support Changes affecting Newborn Screening" [Molecular Genetics and Metabolism Volume 145, Issue 4, August 2025, 109190].
Susan Berry, Shibani Kanungo, Erin Cooney

Mol Genet Metab· August 2025

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Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes.
Margo Sheck Breilyn, Kara Simpson, Sara A Elsbecker, John R Barber, , Susan A Berry

Mol Genet Metab· April 2025

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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Wendy E Smith, Susan A Berry, Kaitlyn Bloom, Christine Brown, Barbara K Burton

Genet Med· January 2025

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Long-term Outcomes of Liver Transplantation for Inborn Errors of Metabolism in Children.
William Miller, Jillian Wothe, Qi Wang, David Vock, Heli Bhatt, Susan Berry

Transplant Proc· August 2024

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Optimised human stool sample collection for multi-omic microbiota analysis.
Matthew R Gemmell, Thisun Jayawardana, Sabrina Koentgen, Ella Brooks, Nicholas Kennedy, Susan Berry

Sci Rep· July 2024

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Access to Dietary Treatment for Inborn Errors of Metabolism: You Do Not Get What You Do Not Pay For.
Susan A Berry

JAMA Netw Open· June 2024

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Understanding patient, caregiver, and healthcare provider perspectives of the management of long-chain fatty acid oxidation disorders.
Eileen Sullivan Baker, Jennifer Botham, Tasia Rechisky, Evelyn Romano, Daniel Garcia, Susan A Berry

Ther Adv Rare Dis· May 2024

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An ancient polymorphic regulatory region within the BDNF gene associated with obesity modulates anxiety-like behaviour in mice and humans.
Andrew R McEwan, Benjamin Hing, Johanna C Erickson, Greg Hutchings, Charity Urama, Susan Berry

Mol Psychiatry· March 2024

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Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision.
Kate P Shane-Carson, Loan Stone, Kaitlin Justice, Shannah Mwanda, Amy Stagg, Susan A Berry

J Genet Couns· February 2024

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Subcellular Epithelial HMGB1 Expression Is Associated with Colorectal Neoplastic Progression, Male Sex, Mismatch Repair Protein Expression, Lymph Node Positivity, and an 'Immune Cold' Phenotype Associated with Poor Survival.
Ross J Porter, Graeme I Murray, Sandra Hapca, Andrew Hay, Stephanie G Craig, Susan H Berry

Cancers (Basel)· March 2023

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Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.
Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S Kirby, Mathew J Edick, Susan A Berry

Mol Genet Metab Rep· September 2022

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Microcalorimetric Investigations of Reversible Staphylococcal Enterotoxin Unfolding.
Susan C Berry, Odbert A Triplett, Li-Rong Yu, Mark E Hart, Lauren S Jackson

Toxins (Basel)· August 2022

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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier

Front Genet· July 2022

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Health Supervision for Children and Adolescents With Down Syndrome.
Marilyn J Bull, Tracy Trotter, Stephanie L Santoro, Celanie Christensen, Randall W Grout, Susan A Berry

Pediatrics· May 2022

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Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Kevin Wilhelm, Mathew J Edick, Susan A Berry, Michael Hartnett, Amy Brower

Front Genet· May 2022

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Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
Anjali Aggarwal, Nishitha R Pillai, Charles J Billington, Lynn Schema, Susan A Berry

Am J Med Genet A· April 2022

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Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kimberly A Kripps, Leighann Sremba, Austin A Larson, Johan L K Van Hove, Hoanh Nguyen, Susan A Berry

J Inherit Metab Dis· March 2022

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Interleukin-27 Regulates the Function of the Gastrointestinal Epithelial Barrier in a Human Tissue-Derived Organoid Model.
Daniel P Brice, Graeme I Murray, Heather M Wilson, Ross J Porter, Susan Berry

Biology (Basel)· March 2022

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Gut Mucosal Microbiome Signatures of Colorectal Cancer Differ According to BMI Status.
Sophie Shaw, Susan Berry, John Thomson, Graeme I Murray, Emad El-Omar

Front Med (Lausanne)· February 2022

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Low Intensity Shockwave Treatment Modulates Macrophage Functions Beneficial to Healing Chronic Wounds.
Jason S Holsapple, Ben Cooper, Susan H Berry, Aleksandra Staniszewska, Bruce M Dickson

Int J Mol Sci· July 2021

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Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
Nishitha R Pillai, Dana Miller, Elizabeth I Pierpont, Susan A Berry, Anjali Aggarwal

Am J Med Genet A· June 2021

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Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.
Stephanie P Kerkvliet, Michelle N Rheault, Susan A Berry

Am J Med Genet A· April 2021

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