Eirik Frengen

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological Sciences

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: “Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy”.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.005

N/A

1.3DataRank · unranked

55 citations

Xénia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C. Koboldt, Georgios Kellaris +72 more

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Human Mutation(2020)10.1002/humu.24127

N/A

0.464DataRank · unranked

21 citations

Lokuliyange D. S. Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma Mujezinović Larsen +25 more

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

medRxiv(2022)10.1101/2022.02.15.22270795

N/A

0.373DataRank · unranked

11 citations

Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand +95 more

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Communications Biology(2024)10.1038/s42003-024-06466-1

N/A

0DataRank · unranked

12 citations

Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen +17 more

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.01.839274

N/A

0DataRank · unranked

1 citations

Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman +16 more

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Human Molecular Genetics(2020)10.1093/hmg/ddaa108

N/A

0DataRank · unranked

37 citations

Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman +18 more

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010

N/A

0DataRank · unranked

39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more