Roberto Mendoza‐Londono

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: “Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy”.

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

0.759DataRank · unranked

17 citations

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

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0.416DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.29.577876

N/A

0.165DataRank · unranked

2 citations

Jaemin Kim, Yogesh K. Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong +17 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

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

Brain(2025)10.1093/brain/awaf273

N/A

0DataRank · unranked

1 citations

Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Chung Ting Tsoi +36 more

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis

The Journal of Experimental Medicine(2024)10.1084/jem.20240546

N/A

0DataRank · unranked

8 citations

Neil Warner, Rui Guan, Marco M. Rodari, Danton Ivanochko, Ryder Whittaker Hawkins +36 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y

N/A

0DataRank · unranked

6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more