Diana Bharucha‐Goebel

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 12 papers. Top paper: “Intrathecal Gene Therapy for Giant Axonal Neuropathy”.

Intrathecal Gene Therapy for Giant Axonal Neuropathy

New England Journal of Medicine(2024)10.1056/nejmoa2307952

N/A

1.4DataRank · unranked

59 citations

Joshua J. Todd, Dimah Saade, Gina Norato, Minal Jain, Tanya Lehky +24 more

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

Neurology Genetics(2024)10.1212/nxg.0000000000200148

N/A

0.280DataRank · unranked

4 citations

Pomi Yun, M. Leach, Sarah Neuhaus, G. Averion, Ying Hu +17 more

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Brain(2021)10.1093/brain/awab179

N/A

0DataRank · unranked

38 citations

Gina Norato, Dimah Saade, Eduardo Paredes, Victoria Biancavilla, Sandra Donkervoort +14 more

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Nature Communications(2021)10.1038/s41467-021-20939-5

N/A

0DataRank · unranked

36 citations

Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin D. Tubbs, Micaela V. McCall +16 more

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

Neonatal Botulism: A Case Series Suggesting Varied Presentations

Pediatric Neurology(2023)10.1016/j.pediatrneurol.2023.06.004

N/A

0DataRank · unranked

4 citations

Philip Eye, Matthew T. Whitehead, Diana Bharucha‐Goebel, Emmeline Roth, Tayyba Anwar +3 more

PIEZO2‐dependent rapid pain system in humans and mice

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.01.569650

N/A

0DataRank · unranked

9 citations

Marek Brodzki, Houria Manouze, Gabriela B. Carballo, Emma Kindström, Felipe Meira de‐Faria +24 more

Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.13.532440

N/A

0DataRank · unranked

1 citations

Maryam Faridounnia, Adriana S. Beltrán, Jasmine Robinson, Karina Kinghorn, J. Ashley Ezzell +8 more

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

Brain(2025)10.1093/brain/awaf219

N/A

0DataRank · unranked

3 citations

Christopher P. Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A. Peterson, Davide Pareyson +47 more

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Human Molecular Genetics(2020)10.1093/hmg/ddaa051

N/A

0DataRank · unranked

9 citations

Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik +23 more

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy ( GAN )

Muscle & Nerve(2025)10.1002/mus.70004

N/A

0DataRank · unranked

0 citations

Thomas W. Bouldin, Diana Bharucha‐Goebel, Terry Hartman, Steven J. Gray, Rachel M. Bailey +7 more

GARS‐related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61544

N/A

0DataRank · unranked

28 citations

Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes +14 more