Andrew E. Fry

Also affiliated with Whitchurch Hospital, Public Health Wales, Cardiff University

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 8 papers. Top paper: “Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder”.

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Nature Communications(2021)10.1038/s41467-021-21053-2

N/A

0DataRank · unranked

65 citations

Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino +19 more

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-107971

N/A

0DataRank · unranked

13 citations

Annie Laquerrière, Florent Marguet, Scott J. Myers, Yuan Hongjie, Diana Baralle +24 more

Clinical and functional consequences of GRIA variants in patients with neurological diseases

Cellular and Molecular Life Sciences(2023)10.1007/s00018-023-04991-6

N/A

0DataRank · unranked

19 citations

Riley E. Perszyk, Nana Liu, Yuchen Xu, Subhrajit Bhattacharya, Gil Shaulsky +25 more

Brain malformations and seizures by impaired chaperonin function of TRiC

Science(2024)10.1126/science.adp8721

N/A

0DataRank · unranked

24 citations

Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil K. Zajt, Dimah Hasan +82 more

PSMC5 insufficiency and P320R mutation impair proteasome function

Human Molecular Genetics(2024)10.1093/hmg/ddae085

N/A

0DataRank · unranked

4 citations

Jenny Carmichael, G. Collins, Daniela D’Agostino, Mathieu Lessard, Helen V. Firth +8 more

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.017

N/A

0DataRank · unranked

47 citations

Christopher Marra, Anna V. Derrick, William Owen Pickrell, Adam T. Higgins, Johann te Water Naudé +17 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more