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NPJ Parkinson'S Disease|July 26, 2024
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencingPilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, et al.
Plos One|June 2, 2016
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's DiseaseCeleste Sassi, Perry G Ridge, Michael A Nalls, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 7, 2021
Accelerating Medicines Partnership: Parkinson's Disease. Genetic ResourceHirotaka Iwaki, Hampton L Leonard, Mary B Makarious, et al.
NPJ Parkinson'S Disease|June 29, 2023
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10Milda Aleknonytė-Resch, Joanne Trinh, Hampton Leonard, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 21, 2007
Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypesJ C Schymick, Y Yang, P M Andersen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2024
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
The Lancet. Digital Health|February 1, 2026
CARDBiomedBench: a benchmark for evaluating the performance of large language models in biomedical researchOwen Bianchi, Maya Willey, Chelsea X Alvarado, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
Biorxiv : the Preprint Server for Biology|January 27, 2025
CARDBiomedBench: A Benchmark for Evaluating Large Language Model Performance in Biomedical Research: A novel question-and-answer benchmark designed to assess Large Language Models' comprehension of biomedical research, piloted on Neurodegenerative DiseasesOwen Bianchi, Maya Willey, Chelsea X Alvarado, et al.
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