Ashleigh E. Schaffer

Also affiliated with Case Western Reserve 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 17 papers. Top paper: “TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome”.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Nature Communications(2024)10.1038/s41467-024-45948-y

N/A

0.412DataRank · unranked

8 citations

Geneva LaForce, Anshika Srivastava, Delia Perillo, Shaokun Li, Katherine Johnson +25 more

Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration

Neuron(2022)10.1016/j.neuron.2022.01.018

N/A

0DataRank · unranked

29 citations

Jordan S. Farr, Jingyi Liu, Cydni Akesson, Evren Gümüş, Otis Pinkard +10 more

Adapting the endoplasmic reticulum proteostasis rescues epilepsy-associated NMDA receptor variants

Acta Pharmacologica Sinica(2023)10.1038/s41401-023-01172-w

N/A

0DataRank · unranked

16 citations

Taylor M. Benske, Lucie Y. Ahn, Ashleigh E. Schaffer, James C. Paton, Adrienne W. Paton +3 more

Pharmacological chaperones restore proteostasis of epilepsy-associated GABA A receptor variants

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.18.537383

N/A

0DataRank · unranked

4 citations

Hailey Seibert, Lucie Ahn, Ashleigh E. Schaffer, Ting-Wei Mu, Yajuan Wang

Structural variation in families with speech and language disorder provides a deeper understanding of the genetic basis for naturally acquired speech

Research Square(2023)10.21203/rs.3.rs-2972813/v1

N/A

0DataRank · unranked

0 citations

Penelope Benchek, Gabrielle Miller, Kim Brustoski, Ashleigh E. Schaffer, Barbara Truitt +6 more

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Research Square(2023)10.21203/rs.3.rs-2126145/v1

N/A

0DataRank · unranked

0 citations

Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon A. Berger +24 more

Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants

Pharmacological Research(2024)10.1016/j.phrs.2024.107356

N/A

0DataRank · unranked

15 citations

Hailey Seibert, Lucie Ahn, Ashleigh E. Schaffer, Ting-Wei Mu, Yajuan Wang

Importance of copy number variants in childhood apraxia of speech and other speech sound disorders

Communications Biology(2024)10.1038/s42003-024-06968-y

N/A

0DataRank · unranked

4 citations

Penelope Benchek, Gabrielle Miller, Kim Brustoski, Ashleigh E. Schaffer, Barbara Truitt +6 more

Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.11.575304

N/A

0DataRank · unranked

3 citations

Polyxeni Philippidou, Bianca de Freitas Brenha, Ashleigh E. Schaffer, Helen C. Miranda, Daniel Chen

Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS

eLife(2024)10.7554/elife.95388

N/A

0DataRank · unranked

2 citations

Polyxeni Philippidou, Bianca de Freitas Brenha, Ashleigh E. Schaffer, Helen C. Miranda, Daniel Chen

Reviewer #2 (Public Review): Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS

(2024)10.7554/elife.95388.1.sa0

N/A

0DataRank · unranked

0 citations

Polyxeni Philippidou, Bianca de Freitas Brenha, Ashleigh E. Schaffer, Helen C. Miranda, Daniel Chen

Reviewer #1 (Public Review): Scalable, optically-responsive human neuromuscular junction model reveals convergent mechanisms of synaptic dysfunction in familial ALS

(2024)10.7554/elife.95388.1.sa1

N/A

0DataRank · unranked

0 citations

Polyxeni Philippidou, Bianca de Freitas Brenha, Ashleigh E. Schaffer, Helen C. Miranda, Daniel Chen

Plasticity of the mammalian integrated stress response

Nature(2025)10.1038/s41586-025-08794-6

N/A

0DataRank · unranked

41 citations

David Papadopoli, Krzysztof J. Szkop, Bo-Jhih Guan, Mohammed R. Alzahrani, Jing Wu +25 more

Integrator loss leads to dsRNA formation that triggers the integrated stress response

Cell(2025)10.1016/j.cell.2025.03.025

N/A

0DataRank · unranked

22 citations

Nicole ChenCheng Zhao, Ryan J. Marina, Kai-Lieh Huang, Anastasia Kuzkina, Maria Elisa Amodeo +8 more

Convergent activation of the integrated stress response and ER–mitochondria uncoupling in VAPB-associated ALS

EMBO Molecular Medicine(2025)10.1038/s44321-025-00279-3

N/A

0DataRank · unranked

2 citations

James P Costanzo, Miguel Mitne‐Neto, Mayana Zatz, Ashleigh E. Schaffer, Maria Hatzoglou +3 more

An epilepsy‐associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

Journal of Neuroscience Research(2020)10.1002/jnr.24747

N/A

0DataRank · unranked

12 citations

Giuliana Castello Coatti, Jingyi Liu, Evren Gümüş, Ashleigh E. Schaffer, Helen C. Miranda +1 more

Exploring the connection between RNA splicing and intellectual disability

Current Opinion in Genetics & Development(2025)10.1016/j.gde.2025.102322

N/A

0DataRank · unranked

2 citations

Ashleigh E. Schaffer, Anthony Caputo