Janette diMonda

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 3 papers. Top paper: “Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism”.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 more

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.016

N/A

0DataRank · unranked

10 citations

Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt +42 more