Pediatrics Genetics

Fingerprint Dive into the research topics where Pediatrics Genetics is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.

  • Network Recent external collaboration on country level. Dive into details by clicking on the dots.

    Profiles

    No photo of Omar A Abdul-Rahman

    Omar A Abdul-Rahman, MD

    Person: Member, Academic, Administrator

    20042020
    No photo of James D Eudy

    James D Eudy, PhD

    Person: Academic

    19962020
    No photo of Richard E Lutz

    Richard E Lutz, MD

    Person: Academic

    19892019

    Projects

    The Molecular Biology of Neurosensory Systems

    Walsh, E. J., Gurumurthy, C., Eudy, J. D., Smith, S. D., Wert, D. & Gurumurthy, C. B.

    National Institutes of Health

    9/5/148/31/19

    Project: Research project

  • Research Output

    Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

    Lin, A. E., Alali, A., Starr, L. J., Shah, N., Beavis, A., Pereira, E. M., Lindsay, M. E. & Klugman, S., Feb 1 2020, In : American Journal of Medical Genetics, Part A. 182, 2, p. 328-337 10 p.

    Research output: Contribution to journalArticle

  • Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

    Reis, L. M., Houssin, N. S., Zamora, C., Abdul-Rahman, O., Kalish, J. M., Zackai, E. H., Plageman, T. F. & Semina, E. V., Mar 1 2020, In : Clinical Genetics. 97, 3, p. 502-508 7 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

    Mattioli, F., Isidor, B., Abdul-Rahman, O., Gunter, A., Huang, L., Kumar, R., Beaulieu, C., Gecz, J., Innes, M., Mandel, J. L. & Piton, A., Jan 1 2019, In : Human Molecular Genetics. 28, 6, p. 952-960 9 p.

    Research output: Contribution to journalArticle

  • 3 Scopus citations