Seth J. Perlman

Also affiliated with University of Washington

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

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 9 papers. Top paper: “Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy”.

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

Neurology(2024)10.1212/wnl.0000000000208112

N/A

1.5DataRank · unranked

71 citations

Jesse M. Damsker, Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith +39 more

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0.825DataRank · unranked

243 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.365395

N/A

0DataRank · unranked

10 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +32 more

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

JAMA Neurology(2021)10.1001/jamaneurol.2021.2598

N/A

0DataRank · unranked

85 citations

Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon +87 more

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101886

N/A

0DataRank · unranked

7 citations

Jennifer N. Cech, Cate Paschal, Bri Dingmann, Anna I. Scott, Jenny Thies +24 more

Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.

Scientific Reports(2025)10.1038/s41598-025-23758-6

N/A

0DataRank · unranked

3 citations

Rebecca Tobin, C. Degan, Ahmed Naveed, Michela Guglieri, Albert Jiménez-Requena +88 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 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

Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant)

Neuromuscular Disorders(2020)10.1016/j.nmd.2020.01.002

N/A

0DataRank · unranked

6 citations

Cheryl Smith, Wendy Sebetka, Amber Gedlinske, Seth J. Perlman, Katherine D Mathews +1 more