Publications by authors named "Susan A 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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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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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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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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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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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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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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Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).
Elizabeth I Pierpont, Susan A Berry, Angela E Lin, Jamie L Lohr, Lisa A Schimmenti

Am J Med Genet A· February 2021

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Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Tracy L McGregor, Susan A Berry, Katrina M Dipple, Rizwan Hamid,

Pediatrics· January 2021

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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Nicola Longo, George A Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Susan A Berry

Mol Genet Metab· January 2021

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Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kim L McBride, Susan A Berry, Nancy Braverman,

Genet Med· November 2020

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PMM2-CDG caused by uniparental disomy: Case report and literature review.
Laurien Vaes, George E Tiller, Belén Pérez, Suzanne W Boyer, Susan A Berry

JIMD Rep· July 2020

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Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need.
Susan A Berry, Christine S Brown, Carol Greene, Kathryn M Camp, Stephen McDonough

Pediatrics· March 2020

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Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.
Susan M Wolf, Pilar N Ossorio, Susan A Berry, Henry T Greely, Amy L McGuire

J Law Med Ethics· March 2020

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Developing interactions with industry in rare diseases: lessons learned and continuing challenges.
Susan A Berry, Curtis R Coughlin, Shawn McCandless, Robert McCarter, Jennifer Seminara

Genet Med· January 2020

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Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.
Alana M McNeill, Rebekah L Hudock, Allison M H Foy, Ryan Shanley, Margaret Semrud-Clikeman, Susan A Berry

Am J Med Genet A· December 2019

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Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.
Wylie Burke, Ellen Wright Clayton, Susan M Wolf, Susan A Berry, Barbara J Evans

Genet Med· 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, Susan A Berry

Mol Genet Metab· August 2019

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A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Katie Wiens, Susan A Berry, Hyoung Choi, Amy Gaviglio, Ashish Gupta

Am J Med Genet A· July 2019

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