Shawn Rynearson

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 6 papers. Top paper: “ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants”.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

UNC Libraries(2020)10.17615/0r6z-dk65

N/A

0DataRank · unranked

0 citations

Kevin Riehle, Heidi L. Rehm, Rajarshi Ghosh, Tristan H Nelson, Aaron B. Baker +16 more

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Cell Genomics(2021)10.1016/j.xgen.2021.100027

N/A

0DataRank · unranked

56 citations

Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel Cameron +23 more

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.15.426843

N/A

0DataRank · unranked

11 citations

Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel Cameron +22 more

LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar

PubMed(2021)10.22541/au.162261754.44560305/v1

N/A

0DataRank · unranked

1 citations

Wendy Kohlmann, Therese Berry, Neetha Sama, Cathryn Koptiuch, Shawn Rynearson +2 more

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

Molecular Genetics & Genomic Medicine(2022)10.1002/mgg3.1888

N/A

0DataRank · unranked

8 citations

Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pınar Bayrak‐Toydemir, Christine E. Miller +22 more

Rapid genome sequencing identifies a novel de novoSNAP25variant for neonatal congenital myasthenic syndrome

Molecular Case Studies(2022)10.1101/mcs.a006242

N/A

0DataRank · unranked

15 citations

Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E. Boyden +14 more