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Science Translational Medicine|October 25, 2013
Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansionDhruv Sareen, Jacqueline G O'Rourke, Pratap Meera, et al.
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.
Science (New York, N.Y.)|March 19, 2016
C9orf72 is required for proper macrophage and microglial function in miceJ G O'Rourke, L Bogdanik, A Yáñez, et al.
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, 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.
Human Molecular Genetics|May 17, 2014
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisJillian G Buchan, David M Alvarado, Gabe E Haller, et al.
Elife|November 19, 2021
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disordersJonathan Gilley, Oscar Jackson, Menelaos Pipis, et al.
Neuron|December 6, 2015
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTDJacqueline G O'Rourke, Laurent Bogdanik, A K M G Muhammad, et al.
Molecular Psychiatry|November 20, 2021
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disordersAnna Alkelai, Lior Greenbaum, Anna R Docherty, et al.
Cell Reports|August 15, 2025
Alpha-synuclein abundance and localization are regulated by the RNA-binding protein PUMILIO1Maximilian Cabaj, Pietro G Mazzara, Zachary A Gaertner, et al.
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