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Biorxiv : the Preprint Server for Biology|October 1, 2025
A Common PD-Risk GBA1 Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial DysfunctionOliver B Davis, Jennifer E Kung, Sonnet S Davis, et al.Cancer Research|May 13, 2020
A Custom Genotyping Array Reveals Population-Level Heterogeneity for the Genetic Risks of Prostate Cancer and Other Cancers in AfricaMaxine Harlemon, Olabode Ajayi, Paidamoyo Kachambwa, et al.American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.Science Translational Medicine|December 3, 2025
Loss of PILRA promotes microglial immunometabolism to reduce amyloid pathology in cell and mouse models of Alzheimer's diseaseTanya N Weerakkody, Hanna Sabelström, Shan V Andrews, et al.Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.Pageof 15