Sarah Neuhaus

Also affiliated with National Institute of Neurological Disorders and Stroke

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

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

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 more

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine(2021)10.1038/s41591-021-01346-1

N/A

0DataRank · unranked

153 citations

Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta +41 more

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

EBioMedicine(2023)10.1016/j.ebiom.2023.104894

N/A

0DataRank · unranked

10 citations

Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh +34 more

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100274

N/A

0DataRank · unranked

2 citations

Chamindra G. Laverty, Sandra Donkervoort, Ying Hu, Sarah Silverstein, Sarah Neuhaus +12 more

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225

N/A

0DataRank · unranked

3 citations

Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou +24 more