Xilma R. Ortiz‐González

Also affiliated with University of Pennsylvania

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 8 papers. Top paper: “PURA- Related Developmental and Epileptic Encephalopathy”.

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Brain Communications(2021)10.1093/braincomms/fcab245

N/A

0DataRank · unranked

32 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +53 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

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

0DataRank · unranked

1 citations

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

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency

EMBO Reports(2024)10.1038/s44319-024-00218-2

N/A

0DataRank · unranked

3 citations

Laura Ohl, Thomas Roulé, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh +3 more

IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.20.576443

N/A

0DataRank · unranked

1 citations

Laura Ohl, Thomas Roulé, Yijing Zhou, Jesus A Tintos-Hernández, Kelsey Walsh +3 more

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100525

N/A

0DataRank · unranked

1 citations

Giulia S. Porcari, Lívia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Justin A. McDonough +15 more