Publications by authors named "Hugo Bellen"

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Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila.
Jennifer M Deger, Shabab B Hannan, Mingxue Gu, Colleen E Strohlein, Lindsey D Goodman, Hugo J Bellen

Am J Hum Genet· December 2025

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Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.
Yan Huang, Zhenglong Xiang, Yaqin Xiang, Hu Pan, Mei He, Hugo J Bellen

J Genet Genomics· October 2025

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PICALM Alzheimer's risk allele causes aberrant lipid droplets in microglia.
Alena Kozlova, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Stanislau Smirnou, Hugo J Bellen

Nature· October 2025

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APOA1 binding protein promotes lymphatic cell fate and lymphangiogenesis by relieving caveolae-mediated inhibition of VEGFR3 signaling.
Jun-Dae Kim, Surbhi Chaudhary, Weiqing Chen, Jonathan Astin, Philip S Crosier, Hugo J Bellen

Nat Commun· October 2025

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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.
Kristy L Jay, Nikhita Gogate, Paige I Hall, Kimberly M Ezell, Jonathan C Andrews, Hugo J Bellen

HGG Adv· October 2025

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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Kevin T A Booth, Sharayu V Jangam, Martin M C Chui, Kayla Treat, Lorenzo Graziani, Hugo J Bellen

Brain· August 2025

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Heterozygous variants in affect hearing, vision, cardiac, and immune function.
Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Hugo J Bellen

Elife· August 2025

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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz, Hugo J Bellen

Genet Med· July 2025

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Revealing the nervous system requirements of Alzheimer's disease risk genes in .
Jennifer M Deger, Shabab B Hannan, Mingxue Gu, Colleen E Strohlein, Lindsey D Goodman, Hugo J Bellen

bioRxiv· July 2025

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Alzheimer's disease protective allele of Clusterin modulates neuronal excitability through lipid-droplet-mediated neuron-glia communication.
Xiaojie Zhao, Yan Li, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Hugo J Bellen

Mol Neurodegener· May 2025

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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.
Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja, Hugo J Bellen

Am J Hum Genet· April 2025

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A neuroprotective role of polyunsaturated fatty acids in C9orf72-ALS/FTD.
Sandeep Kumar Dubey, Hugo J Bellen

Nat Neurosci· April 2025

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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Nathalie M Aceves-Ewing, Denise G Lanza, Paul C Marcogliese, Di Lu, Chih-Wei Hsu, Hugo J Bellen

medRxiv· March 2025

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A conserved role for ALG10/ALG10B and the -glycosylation pathway in the sleep-epilepsy axis.
Shubhroz Gill, Torrey R Mandigo, Ayse Deniz Elmali, Brittany S Leger, Bo Yang, Hugo J Bellen

medRxiv· December 2024

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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Hugo J Bellen

Genet Med· November 2024

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Does glial lipid dysregulation alter sleep in Alzheimer's and Parkinson's disease?
Lindsey D Goodman, Matthew J Moulton, Guang Lin, Hugo J Bellen

Trends Mol Med· October 2024

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Tau is required for glial lipid droplet formation and resistance to neuronal oxidative stress.
Lindsey D Goodman, Isha Ralhan, Xin Li, Shenzhao Lu, Matthew J Moulton, Hugo J Bellen

Nat Neurosci· October 2024

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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Hugo J Bellen

Genet Med· September 2024

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Resolution of variable expressivity in a multi-generational family using deep clinical phenotyping and models.
Kristy L Jay, Nikhita Gogate, Kim Ezell, Jonathan C Andrews, Sharayu V Jangam, Hugo J Bellen

medRxiv· September 2024

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Alzheimer's disease protective allele of modulates neuronal excitability through lipid-droplet-mediated neuron-glia communication.
Xiaojie Zhao, Yan Li, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Hugo J Bellen

medRxiv· August 2024

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Alzheimer's disease risk allele of causes detrimental lipid droplets in microglia.
Alena Kozlova, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Stanislau Smirnou, Hugo J Bellen

Res Sq· May 2024

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AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami Ai-Ouran, Cole Deisseroth, Hugo J Bellen

NEJM AI· May 2024

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Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.
Jenny Zhe Liao, Hyung-Lok Chung, Claire Shih, Kenneth Kin Lam Wong, Debdeep Dutta, Hugo J Bellen

Nat Commun· April 2024

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Whole organism snRNA-seq reveals systemic peripheral changes in Alzheimer's Disease fly models.
Ye-Jin Park, Tzu-Chiao Lu, Tyler Jackson, Lindsey D Goodman, Lindsey Ran, Hugo J Bellen

bioRxiv· March 2024

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