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Genome Research|April 4, 2019
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALSSahar Gelfman, Sarah Dugger, Cristiane de Araujo Martins Moreno, et al.Nature Neuroscience|July 31, 2019
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeatsShizuka B Yamada, Tania F Gendron, Teresa Niccoli, et al.Science Advances|December 8, 2023
In vivo protein turnover rates in varying oxygen tensions nominate MYBBP1A as a mediator of the hyperoxia responseXuewen Chen, Augustinus G Haribowo, Alan H Baik, et al.Cell Reports|May 29, 2024
Identification of protein aggregates in the aging vertebrate brain with prion-like and phase-separation propertiesItamar Harel, Yiwen R Chen, Inbal Ziv, et al.American Journal of Human Genetics|August 5, 2020
Evolution of a Human-Specific Tandem Repeat Associated with ALSMeredith M Course, Kathryn Gudsnuk, Samuel N Smukowski, et al.Neuron|June 21, 2016
Activation of HIPK2 Promotes ER Stress-Mediated Neurodegeneration in Amyotrophic Lateral SclerosisSebum Lee, Yulei Shang, Stephanie A Redmond, et al.Biorxiv : the Preprint Server for Biology|April 10, 2026
eSIG-Net: Accurate prediction of single-mutation induced perturbations on protein interactions using a language modelXingxin Pan, Aditya Shrawat, Sidharth Raghavan, et al.Nature Methods|April 29, 2026
eSIG-Net: an interaction language model that decodes the protein code of single mutationsXingxin Pan, Aditya Shrawat, Sidharth Raghavan, et al.Nature Medicine|June 27, 2018
Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosisYong-Jie Zhang, Tania F Gendron, Mark T W Ebbert, et al.Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.Pageof 23