Concepedia

Monica Penon‐Portmann

MP

Statistics

Publications

5

Citations

191

H-Index

5

Active since

2019

Affiliations

University of California, San Francisco(Current)

Hospital Nacional de Niños

Monica Penon‐Portmann is an author at University of California, San Francisco specializing in genetics, life sciences, and medical genetics.

ORCID

Publications per year

2019–2023

5

Publications

5

Genetics workforce: distribution of genetics services and challenges to health care in California

Monica Penon‐Portmann, Jiyoo Chang, Mira Cheng et al. · Genetics in Medicine · 2019 · 80 citations · Full text

, , +16

Application of full-genome analysis to diagnose rare monogenic disorders

Joseph T.C. Shieh, Monica Penon‐Portmann, K. Wong et al. · npj Genomic Medicine · 2021 · 53 citations · Full text

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<scp>Rubinstein–Taybi</scp> syndrome in diverse populations

Cedrik Tekendo‐Ngongang, Babajide Owosela, Nicole Fleischer et al. · American Journal of Medical Genetics Part A · 2020 · 32 citations · Full text

, , +10

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

Joseph T.C. Shieh, Jesus A Tintos-Hernández, Chaya N. Murali et al. · Human Genetics and Genomics Advances · 2023 · 15 citations · Full text

, , +17

Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

Monica Penon‐Portmann, Stephanie Lotz‐Esquivel, Alejandra Chavez Carrera et al. · JIMD Reports · 2020 · 11 citations · Full text

, , +14

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