Natalia Gomez‐Ospina

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 7 papers. Top paper: “Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)”.

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.001

N/A

0DataRank · unranked

36 citations

Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez‐Ospina, Carlos O. Esquivel +18 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation

Molecular Therapy — Methods & Clinical Development(2022)10.1016/j.omtm.2022.04.009

N/A

0DataRank · unranked

18 citations

Pasqualina Colella, Luisa N. Pimentel Vera, Shaukat Khan, Shunji Tomatsu, Guilherme Baldo +2 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Jonathan Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti +17 more

Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation

Research Square(2025)10.21203/rs.3.rs-7123212/v1

N/A

0DataRank · unranked

1 citations

Luisa Pimentel Vera, Marc Gastou, Pasqualina Colella, Jessica Arozqueta Basurto, Allan Feng +4 more