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Susan A Berry, Professor

M.D.

 https://orcid.org/0000-0001-7970-688X
1977 …2020

Research output per year

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Projects

Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN)

Berry, S. A.

CHILDREN'S RESEARCH INSTITUTE

9/17/19 → 7/31/20

Project: Research project

    • Inborn Errors of Metabolism Research Fund

    Berry, S. A.

    CHILDREN'S RESEARCH INSTITUTE

    8/17/19 → 7/31/20

    Project: Research project

    Data Monitoring Committee: "A Phase 3 randomized, multicenter, multinational, double-blinded studycomparing the efficacy and safety of repeated biweekly infusions of neoGAA (GZ402666) andalglucosidase alfa in treatment-naive patients with late

    Berry, S. A.

    SANOFI-AVENTIS US

    2/15/19 → 12/31/20

    Project: Research project

    • Data Monitoring Committee: "An Open-label Ascending Dose Cohort Study to Assess the Safety,Pharmacokinetics, and Preliminary Efficacy of NeoGAA (GZ402666) in Patients with Infantile-onset PompeDisease Treated with Alglucosidase Alfa Who Demonstrate Cli

    Berry, S. A.

    SANOFI-AVENTIS US

    2/15/19 → 12/31/20

    Project: Research project

    • Inborn Errors of Metabolism Research Fund

    Berry, S. A.

    CHILDREN'S RESEARCH INSTITUTE

    8/1/18 → 7/31/19

    Project: Research project

    Research Output

    Developing interactions with industry in rare diseases: lessons learned and continuing challenges

    Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2020, In : Genetics in Medicine. 22, 1, p. 219-226 8 p.

    Research output: Contribution to journal › Article

    Open Access
    • 1 Scopus citations

    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

    for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, May 1 2020, In : Human mutation. 41, 5, p. 946-960 15 p.

    Research output: Contribution to journal › Article

    • 1 Scopus citations

    Health care supervision for children with Williams syndrome

    COUNCIL ON GENETICS EXECUTIVE COMMITTEE, Feb 1 2020, In : Pediatrics. 145, 2

    Research output: Contribution to journal › Article

    Open Access

    • Medical foods for inborn errors of metabolism: History, current status, and critical need

    on behalf of the Follow-up and Treatment (FUTR) Workgroup for the Advisory Committee on Heritable Disorders in Newborns and Children, Mar 1 2020, In : Pediatrics. 145, 3, e20192261.

    Research output: Contribution to journal › Article

    • An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy

    LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S., Gail Summers, C. & Mukherjee, K., Jan 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.

    Research output: Contribution to journal › Article

    Open Access
    • 3 Scopus citations