Monica Penon‐Portmann

Also affiliated with University of Washington, University of Washington Medical Center, Brotman Baty Institute

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. Top paper: “Application of full-genome analysis to diagnose rare monogenic disorders”.

Application of full-genome analysis to diagnose rare monogenic disorders

npj Genomic Medicine(2021)10.1038/s41525-021-00241-5

N/A

0.598DataRank · unranked

53 citations

Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek +15 more

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

medRxiv(2023)10.1101/2023.01.30.23285099

N/A

0.104DataRank · unranked

1 citations

Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon‐Portmann, Marco Flores‐Méndez, Adrian Santana +12 more

Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders

medRxiv(2020)10.1101/2020.10.22.20216531

N/A

0DataRank · unranked

9 citations

Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek +15 more

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

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100236

N/A

0DataRank · unranked

17 citations

Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon‐Portmann, Marco Flores‐Méndez, Adrian Santana +12 more

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70053

N/A

0DataRank · unranked

5 citations

Stephen Viviano, Fazliny Abd Rahman, Samuel D. Strohbehn, Aimee Allworth, Norma Pérez +9 more