Phenotype Genotype Biomarkers (PGB)

Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS

M. Benatar, Lanyu Zhang, Lily Wang, et al.. (2020). Neurology. Cited 149 times. https://doi.org/10.1212/WNL.0000000000009559

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

S. Farhan, D. Howrigan, Liam Abbott, et al.. (2019). Nature Neuroscience. Cited 112 times. https://doi.org/10.1038/s41593-019-0530-0

Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis

M. Benatar, Eric A Macklin, Andrea Malaspina, et al.. (2024). eBioMedicine. Cited 28 times. https://doi.org/10.1016/j.ebiom.2024.105323

Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis

Katerina Placek, M. Benatar, J. Wuu, et al.. (2020). EMBO Molecular Medicine. Cited 24 times. https://doi.org/10.15252/emmm.202012595

Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis

M. Nel, Amokelani C. Mahungu, Nomakhosazana Monnakgotla, et al.. (2022). Neurology: Genetics. Cited 19 times. https://doi.org/10.1212/NXG.0000000000000654

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Cyril Pottier, E. Rampersaud, M. Baker, et al.. (2018). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. Cited 19 times. https://doi.org/10.1080/21678421.2018.1452947

Temporal course of cognitive and behavioural changes in motor neuron diseases

Caroline A. McHutchison, J. Wuu, C. Mcmillan, et al.. (2023). Journal of Neurology, Neurosurgery, and Psychiatry. Cited 17 times. https://doi.org/10.1136/jnnp-2023-331697

FGF23, a novel muscle biomarker detected in the early stages of ALS

Ying Si, Mohamed Kazamel, M. Benatar, et al.. (2021). Scientific Reports. Cited 17 times. https://doi.org/10.1038/s41598-021-91496-6

A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes

Wenan Chen, Shuoguo Wang, S. Tithi, et al.. (2022). Nature Communications. Cited 15 times. https://doi.org/10.1038/s41467-022-30248-0

Humoral response to neurofilaments and dipeptide repeats in ALS progression

F. Puentes, V. Lombardi, Ching-Hua Lu, et al.. (2021). Annals of Clinical and Translational Neurology. Cited 14 times. https://doi.org/10.1002/acn3.51428

Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans

M. Nel, Thandeka Mavundla, K. Gultig, et al.. (2021). IBRO Neuroscience Reports. Cited 10 times. https://doi.org/10.1016/j.ibneur.2021.02.002

Occupational lead exposure and survival with amyotrophic lateral sclerosis

Te-Wei Wang, J. Wuu, Anne E. Cooley, et al.. (2022). Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. Cited 5 times. https://doi.org/10.1080/21678421.2022.2059379

Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype

Jesse I. Crayle, E. Rampersaud, Jason R. Myers, et al.. (2024). Neurology. Cited 4 times. https://doi.org/10.1212/WNL.0000000000209696

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases

Gang Wu, Wenan Chen, J. Wuu, et al.. (2025). Translational Neurodegeneration. https://doi.org/10.1186/s40035-025-00516-2

Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans

MSc Nomakhosazana R. Monnakgotla, MSc Amokelani C. Mahungu, MBChB Jeannine M. Heckmann, et al.. (2023). Neurology: Genetics. https://doi.org/10.1212/NXG.0000000000200077