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Author Details

Susan A Berry
University of Minnesota
1977
140
36
PMIDPaper TitleJournal TitlePublished Year
34625984Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.J Inherit Metab Dis2022
35677112Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database.Mol Genet Metab Rep2022
35692825Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.Front Genet2022
34905296Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.Am J Med Genet A2022
33388234Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.Mol Genet Metab2021
33729671Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.Am J Med Genet A2021
33372121Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.Pediatrics2021
33241662Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020).Am J Med Genet A2021
33443292Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: A case report.Am J Med Genet A2021
31337884Developing interactions with industry in rare diseases: lessons learned and continuing challenges.Genet Med2020
32034080Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need.Pediatrics2020
32741966Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
32685345PMM2-CDG caused by uniparental disomy: Case report and literature review.JIMD Rep2020
32342790Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.J Law Med Ethics2020
30393376Foundation of the Newborn Screening Translational Research Network and its tools for research.Genet Med2019
32076389Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique.Digit J Ophthalmol2019
30100612Including ELSI research questions in newborn screening pilot studies.Genet Med2019
31326288Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.Mol Genet Metab2019
31566897Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.Am J Med Genet A2019
31074578A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.Am J Med Genet A2019
31160753Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.Genet Med2019
30549415An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.Am J Med Genet A2019
29304374Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.Am J Hum Genet2018
30217721Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2⿯months to 2⿯years of age with urea cycle disorders.Mol Genet Metab2018
29914349Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.J Neurodev Disord2018
29928179Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.Mol Syndromol2018
30008546Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.J Law Med Ethics2018
29463858Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.Eur J Hum Genet2018
27776753Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.J Pediatr2017
28451876An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).J Genet Couns2017
28916119Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.Mol Genet Metab2017
25856670Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.Genet Med2016
26586473Glutamine and hyperammonemic crises in patients with urea cycle disorders.Mol Genet Metab2016
27477829221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.Mol Genet Metab2016
27268406A framework for assessing outcomes from newborn screening: on the road to measuring its promise.Mol Genet Metab2016
27195819Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.Genet Med2016
27209629Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.Mol Genet Metab2016
27033733Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.Mol Genet Metab2016
25957469Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Am J Hum Genet2015
28649536Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.Mol Genet Metab Rep2015
26296711Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.Mol Genet Metab2015
26479555Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations.J Law Med Ethics2015
26499378Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).Clin Immunol2015
26364901Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.Am J Med Genet A2015
26042913Newborn screening.Clin Perinatol2015
24385074Phenylalanine hydroxylase deficiency: diagnosis and management guideline.Genet Med2014
24630270Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.Mol Genet Metab2014
24394680Parental permission for pilot newborn screening research: guidelines from the NBSTRN.Pediatrics2014
22961727Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.Hepatology2013
24144944Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.Mol Genet Metab2013
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Collaborators

Co-authored papers 13
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Center for Biomedical Ethics and Society, Vanderbilt University Medical Center
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Department of Pediatrics University of Minnesota Minneapolis MN.
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Mayo Clinic
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