Monica Penon Portmann, MD

Education
Postdoctoral Scholar, 07/2020 - Medical Genetics, Shieh Lab, University of California San Francisco
Residency, 04/2018 - Pediatrics, University of Costa Rica
MD, 02/2014 - Doctor in Medicine, Honors degree, University of Costa Rica
Residency, - Medical Genetics and Genomics, University of California San Francisco
Honors and Awards
  • Charles Epstein Award Semifinalist, American Society of Human Genetics, 2020
  • Mead Johnson Morphogenesis Award, Western Society for Pediatric Research, 2020

  1. 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. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 2021. PMID: 34556655


  2. 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. Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization. Volume 52 of Issue 1. JIMD reports 2020. PMID: 32154060


  3. Chang J, Penon-Portmann M, Shieh JT. Optimizing genetics online resources for diverse readers. Genetics in medicine : official journal of the American College of Medical Genetics 2019. PMID: 31767985


  4. Penon-Portmann M, Chang J, Cheng 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. PMID: 31417191