Erin Thorpe

Also affiliated with Genetic Alliance, Illumina (United States)

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 4 papers. Top paper: “A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family”.

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Movement Disorders Clinical Practice(2024)10.1002/mdc3.14025

N/A

0.241DataRank · unranked

4 citations

Patricia Ramirez‐Pajares, Alid Manrique‐Palomino, Amanda Clause, Aditi Chawla, Erin Thorpe +6 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

N/A

0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

Clinical genome sequencing in patients with suspected rare genetic disease in Peru

npj Genomic Medicine(2024)10.1038/s41525-024-00434-8

N/A

0DataRank · unranked

4 citations

Mario Cornejo‐Olivas, Milagros Dueñas, Nelson Purizaca‐Rosillo, Richard Rodríguez, Karina Milla‐Neyra +45 more