Riccardo Sangermano

Biochemistry, Genetics and Molecular Biology

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: “Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum”.

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

Nature Genetics(2026)10.1038/s41588-025-02451-4

N/A

0.370DataRank · unranked

8 citations

Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero +212 more

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.020

N/A

0DataRank · unranked

7 citations

Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin +40 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

Genetics in Medicine(2025)10.1016/j.gim.2025.101401

N/A

0DataRank · unranked

4 citations

Maayan Avraham, Sandeep Sarma Asodu, Abigail R. Moye, Riccardo Sangermano, Leah Rizel +19 more

Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen

PLoS Genetics(2025)10.1371/journal.pgen.1011886

N/A

0DataRank · unranked

0 citations

Mark P. Krebs, Riccardo Sangermano, Jessica K. Wong, Cynthia L. Smith, Amelia Willett +14 more

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

JCI Insight(2024)10.1172/jci.insight.183902

N/A

0DataRank · unranked

10 citations

Jennifer Huey, Riccardo Sangermano, Emily Place, Kinga M. Bujakowska, Molly Marra +6 more