Fernanda Belga Ottoni Porto

Universidade do Estado do Rio de Janeiro

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 6 papers. Top paper: “Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy”.

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Genetics in Medicine(2020)10.1038/s41436-020-01003-x

N/A

0DataRank · unranked

15 citations

Jun Wang, Kaitlyn Xiong, Chinthana Thangavel, Xinye Qian, Rola Ba‐Abbad +11 more

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human Mutation(2022)10.1002/humu.24371

N/A

0DataRank · unranked

20 citations

Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso +46 more

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Human Molecular Genetics(2023)10.1093/hmg/ddad032

N/A

0DataRank · unranked

10 citations

Meng C. Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi +13 more

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy

Ophthalmic Genetics(2023)10.1080/13816810.2023.2245035

N/A

0DataRank · unranked

6 citations

Molly Marra, Austin D. Igelman, Cristy A. Ku, Amanda Burr, Katherine Andersen +6 more

Systematic assessment of the contribution of structural variants to inherited retinal diseases

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.02.522522

N/A

0DataRank · unranked

5 citations

Meng C. Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi +13 more

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases

Human Molecular Genetics(2024)10.1093/hmg/ddae028

N/A

0DataRank · unranked

11 citations

Meng Wang, Hafiz Muhammad Jafar Hussain, David E Rauch, Molly Marra, Mark E. Pennesi +14 more