Author

Janel O. Johnson

National Institutes of Health

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

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Adriano ChiòiD· 1 shared Ahmad Al KhleifatiD· 1 shared Alan Edward RentoniD· 1 shared Aleksey ShatunoviD· 1 shared Alfredo IacoangeliiD· 1 shared Ammar Al‐ChalabiiD· 1 shared Andrea CalvoiD· 1 shared Ashley JonesiD· 1 shared

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2020-2020 · peak 1/yr

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1 shared paperGenetics

Adriano ChiòORCID

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1 paper

Recent·Most cited

Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

Janel O. Johnson, Ruth Chia, Danny E. Miller, Rong Li, Yevgeniya A. Abramzon, Ravindran Kumaran, Nada F. Alahmady, Faraz Faghri, Alan Edward Renton, Simon D. Topp, Hannah A. Pliner, Jesse Raphael Gibbs, Jinhui Ding, N. Smith, Natalie Landeck, , Bryan J. Traynor

The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.

bioRxiv · Jun 29, 2020 · PreprintGenetics