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Projects

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 journalArticle

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 journalArticle

  • 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 journalArticle

    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 journalArticle

  • 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 journalArticle

    Open Access
  • 3 Scopus citations