Publications by authors named "Andrew B Singleton"

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Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.
Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de Los Reyes-Ramírez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X Alvarado

NPJ Parkinsons Dis· April 2023

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Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.
Fulya Akçimen, Kensuke Daida, Lara M Lange, Abraham Moller, Abigail Miano-Burkhardt, Andrew B Singleton

Brain· December 2025

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A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.
Fulya Akçimen, Pilar Alvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Andrew B Singleton

Mov Disord· November 2025

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The temporal order of genetic, environmental, and pathological risk factors in Parkinson's disease: paving the way to prevention.
Cornelis Blauwendraat, Huw R Morris, Kendall Van Keuren-Jensen, Alastair J Noyce, Andrew B Singleton

Lancet Neurol· November 2025

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Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.
Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Andrew B Singleton

Brain· October 2025

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Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer's and other neurological disorders.
Caroline Jonson, Mary B Makarious, Mathew J Koretsky, Dan Vitale, Liya Rabkina, Andrew B Singleton

bioRxiv· October 2025

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Polygenic prediction of body mass index and obesity through the life course and across ancestries.
Roelof A J Smit, Kaitlin H Wade, Qin Hui, Joshua D Arias, Xianyong Yin, Andrew B Singleton

Nat Med· September 2025

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Tackling a disease on a global scale, the Global Parkinson's Genetics Program, GP2: A new generation of opportunities.
Cornelis Blauwendraat, Alastair J Noyce, Ignacio F Mata, Laurel A Screven, J Solle, Andrew B Singleton

Am J Hum Genet· September 2025

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Cerebellum mitochondrial DNA copy number is increased in Parkinson's disease.
Talia Beglarian, David R Tyrpak, J Raphael Gibbs, John Andrew MacKay, Sonja W Scholz, Andrew B Singleton

Brain Commun· September 2025

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High Cerebrospinal DOPA Decarboxylase Level Predicts Cognitive Decline in Parkinson's Disease.
Andrea Sturchio, Wojciech Paslawski, Shervin Khosousi, Ioanna Markaki, Michael A Nalls, Andrew B Singleton

Mov Disord Clin Pract· September 2025

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Gut-brain nexus: Mapping multimodal links to neurodegeneration at biobank scale.
Mohammad Shafieinouri, Samantha Hong, Paul Suhwan Lee, Spencer M Grant, Marzieh Khani, Andrew B Singleton

Sci Adv· August 2025

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Long-read sequencing identifies repeat expansions in Parkinson's disease.
Fulya Akçimen, Kensuke Daida, Lara M Lange, Abraham Moller, Abigail Miano-Burkhardt, Andrew B Singleton

medRxiv· August 2025

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Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.
Paula Saffie-Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Andrew B Singleton

Mov Disord· July 2025

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Haplotype-Resolved DNA Methylation at the Locus identifies Allele-Specific Epigenetic Signatures Relevant to Alzheimer's Disease Risk.
Rylee M Genner, Melissa Meredith, Abraham Moller, Cory Weller, Kensuke Daida, Andrew B Singleton

bioRxiv· July 2025

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Erratum: The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources.
Allison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, Cornelis Blauwendraat, Bradford Casey, Andrew B Singleton

Neurol Genet· June 2025

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Dissecting the biological impact of mutations using multi-omics in an isogenic setting.
Pilar Álvarez Jerez, Peter A Wild Crea, Dhairya Patel, Logan M Glasstetter, Christiane Alvarez, Andrew B Singleton

bioRxiv· June 2025

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stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease.
Jesper Qvist Thomassen, Leonard Hampton, Brittany Ulms, Benjamin Grenier-Boley, Sami Heikkinen, Andrew B Singleton

medRxiv· May 2025

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Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Juliana Acosta-Uribe, Stefanie D Piña Escudero, J Nicholas Cochran, Jared W Taylor, P Alejandra Castruita, Andrew B Singleton

Res Sq· May 2025

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The Neurodegenerative Disease Knowledge Portal: Propelling Discovery Through the Sharing of Neurodegenerative Disease Genomic Resources.
Allison A Dilliott, Maria C Costanzo, Sara Bandres-Ciga, Cornelis Blauwendraat, Bradford Casey, Andrew B Singleton

Neurol Genet· April 2025

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Large-scale HLA immunopeptidome and interactome profiling in microglia.
Sydney Klaisner, Ying Hao, Alexandra Beilina, Jae-Hyeon Park, Ziyi Li, Andrew B Singleton

bioRxiv· April 2025

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-associated parkinsonism with and without evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization.
Lana M Chahine, David-Erick Lafontant, Seung Ho Choi, Hirotaka Iwaki, Cornelis Blauwendraat, Andrew B Singleton

Brain Commun· March 2025

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The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.
Lara M Lange, Kristin Levine, Susan H Fox, Connie Marras, Nazish Ahmed, Andrew B Singleton

NPJ Parkinsons Dis· March 2025

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Proteomic Analysis of Endemic Viral Infections in Neurons offers Insights into Neurodegenerative Diseases.
Ziyi Li, Negin P Martin, Jacob Epstein, Shih-Heng Chen, Ying Hao, Andrew B Singleton

bioRxiv· March 2025

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Identification of GGC Repeat Expansions in Among Chilean Movement Disorder Patients.
Paula Saffie-Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Andrew B Singleton

medRxiv· March 2025

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Temporal dynamics of proteome and phosphorproteome during neuronal differentiation in the reference KOLF2.1J iPSC line.
Ying Hao, Ziyi Li, Erika Lara, Daniel M Ramos, Marianist Santiana, Andrew B Singleton

bioRxiv· March 2025

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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 Diseases.
Owen Bianchi, Maya Willey, Chelsea X Alvarado, Benjamin Danek, Marzieh Khani, Andrew B Singleton

bioRxiv· January 2025

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