Monica Penon Portmann, MD
Assistant Professor
Pediatrics
School of Medicine

Awards

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• Charles Epstein Award Semifinalist, American Society of Human Genetics, 2020
• Mead Johnson Morphogenesis Award, Western Society for Pediatric Research, 2020

Education & Training

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• Postdoctoral Scholar Medical Genetics, Shieh Lab University of California San Francisco 07/2020
• Residency Pediatrics University of Costa Rica 04/2018
• MD Doctor in Medicine, Honors degree University of Costa Rica 02/2014
• Residency Medical Genetics and Genomics University of California San Francisco

Interests

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• Tennis player in my free time. I also love to watch indie films and documentaries.

Publications (4)

Top publication keywords:
Genetic PrivacyDatabases, GeneticTravelInsurance CoverageInternetHumansHealth Services AccessibilityInformation DisseminationCaliforniaGenetic Services

• Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 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,…
• Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
  JIMD reports 2020 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…
• Optimizing genetics online resources for diverse readers.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 Chang J, Penon-Portmann M, Shieh JT
• Genetics workforce: distribution of genetics services and challenges to health care in California.
  Genetics in medicine : official journal of the American College of Medical Genetics 2019 Penon-Portmann M, Chang J, Cheng M, Shieh JT