Monica Penon Portmann, MD

Title(s)Clinical Fellow, Pediatrics
SchoolSchool of Medicine
Address550 16th. Street
San Francisco CA 94158
ORCID ORCID Icon0000-0002-3011-440X Additional info
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    Collapse Biography 
    Collapse Education and Training
    University of California San Francisco, San FranciscoResidencyMedical Genetics and Genomics
    University of California San Francisco, San FranciscoPostdoctoral Scholar07/2020Medical Genetics, Shieh Lab
    University of Costa Rica, Costa RicaResidency04/2018Pediatrics
    University of Costa Rica, Costa RicaMD02/2014Doctor in Medicine, Honors degree
    Collapse Awards and Honors
    American Society of Human Genetics2020Charles Epstein Award Semifinalist
    Western Society for Pediatric Research2020Mead Johnson Morphogenesis Award

    Collapse Overview 

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Sep 23; 6(1):77. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34556655; PMCID: PMC8460793.
      View in: PubMed   Mentions: 2  
    2. Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization. JIMD Rep. 2020 Mar; 52(1):55-62. Penon-Portmann M, Lotz-Esquivel S, Chavez Carrera A, Jiménez-Hernández M, Alvarado-Romero D, Segura-Cordero S, Rimolo-Donadio F, Hevia-Urrutia F, Mora-Guevara A, Saborío-Rocafort M, Jiménez-Arguedas G, Badilla-Porras R. PMID: 32154060; PMCID: PMC7052697.
      View in: PubMed   Mentions: 2  
    3. Optimizing genetics online resources for diverse readers. Genet Med. 2020 03; 22(3):640-645. Chang J, Penon-Portmann M, Shieh JT. PMID: 31767985; PMCID: PMC7056640.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Genetics workforce: distribution of genetics services and challenges to health care in California. Genet Med. 2020 01; 22(1):227-231. Penon-Portmann M, Chang J, Cheng M, Shieh JT. PMID: 31417191.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
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