Rachel G. Son

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 4 papers. Top paper: “Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes”.

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

medRxiv(2020)10.1101/2020.09.22.20195529

N/A

0DataRank · unranked

11 citations

Moriel Singer‐Berk, Rachel G. Son, Abigail Sveden, Jordan C. Wood, Eleina England +95 more

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Nature Communications(2021)10.1038/s41467-021-23556-4

N/A

0DataRank · unranked

110 citations

Moriel Singer‐Berk, Rachel G. Son, Abigail Sveden, Jordan C. Wood, Eleina England +95 more

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.005

N/A

0DataRank · unranked

30 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

medRxiv(2023)10.1101/2023.03.08.23286955

N/A

0DataRank · unranked

4 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more