Publications by authors named "Joseph Shen"

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Dual versus monotherapy with SGLT2 inhibitor and GLP-1 receptor agonist:PRECIDENTD pragmatic randomized trial.
Deborah J Wexler, Lindsay S Mayberry, Lyndsay A Nelson, Jeremy Lema-Driscoll, Ligia C Flores, Joseph Shen

Am Heart J· December 2025

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Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.
Tiffany Hu, Javier Rodriguez, Lara L Zimmermann, Ryan Martin, Krupa Savalia, Joseph J Shen

Neurol Neuroimmunol Neuroinflamm· November 2025

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Glymphatic function, deep medullary veins, and cognitive impairment in cerebral small vessel disease: A mediation analysis.
Xiao-Li Yang, Yu-Fan Luo, Tian-Yao Wang, Meng-Xiang Wang, Wen-Mei Lu, Joseph Zongen Shen

Clin Neurol Neurosurg· November 2025

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Sex-specific associations between phthalate exposure and stroke risk: a cross-sectional study integrating molecular mechanisms of vascular dysfunction.
Hai-Qian Zhou, Kai-Li Cheng, Hao-Jy Jin, Joseph Zongen Shen, Dan-Hong Wu

Int J Surg· November 2025

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From exposure to neurotoxicity induced by micro-nanoplastics with brain accumulation and cognitive decline.
Hai-Tao Gao, Hai-Qian Zhou, Hao-Nan Ji, Joseph Zongen Shen, Dong-Min Yin

Ecotoxicol Environ Saf· October 2025

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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.
Sebastian Burkart, Tarik Guzeloglu, Ana R Soares, Irene Valenzuela, Eduardo F Tizzano, Joseph Shen

Clin Genet· October 2025

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Superior Mesenteric Artery Syndrome: A Case Report.
Joseph Shen, Kevin Shen, Brandon Weissman, Shafayath Chowdhury, Roy Shen

Cureus· September 2025

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Under Pressure: A unique mechanoresponsive mechanism of body site-specific keratin regulation in palmoplantar epidermis.
Sarah N Steiner, Eric Horst, Mitre Athaiya, Craig N Johnson, Joseph Y Shen

bioRxiv· September 2025

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Does Obstructive sleep apnea mediate the risk of cognitive impairment by expanding the perivascular space?
Shuan Ke, Tianjing Luo, Yi Ding, Chia-Jung Tang, Zhijun Jie, Joseph Zongen Shen

Sleep Breath· March 2025

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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Francesca Furia, Amanda M Levy, Miel Theunis, Michael J Bamshad, Meghan N Bartos, Joseph J Shen

Clin Genet· November 2024

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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss, Joseph J Shen

Am J Hum Genet· August 2024

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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Joseph J Shen

Am J Hum Genet· July 2024

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Short Stature and Brachydactyly in an 8-year-old Girl with Congenital Hypothyroidism.
Quinn S Fujii, Joseph J Shen, Lindsey A Loomba

Pediatr Rev· April 2024

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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Soha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, Frederic Tran Mau-Them, Manon Réda, Joseph J Shen

Am J Med Genet A· March 2024

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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Christin S Adamo, Aude Beyens, Alvise Schiavinato, Douglas R Keene, Sara F Tufa, Joseph Shen

Am J Hum Genet· December 2022

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MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET.
Ankit Srivastava, Cristina Tommasi, Dane Sessions, Angela Mah, Tomas Bencomo, Joseph Y Shen

Cancer Res· September 2022

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The Adult Neck Mass: Predictors of Malignancy.
Rijul S Kshirsagar, Meredith Anderson, Lauren M Boeckermann, Jason Gilde, Joseph Y Shen

Otolaryngol Head Neck Surg· November 2021

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CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.
Leigh Ann Higa, Jennifer Wardley, Christopher Wardley, Susan Singh, Timothy Foster, Joseph J Shen

BMC Med Genomics· July 2021

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Response to Biesecker et al.
Joseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, Christin D Collins, Robin van der Lee

Genet Med· April 2021

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The role of clinical response to treatment in determining pathogenicity of genomic variants.
Joseph J Shen, Saskia B Wortmann, Lonneke de Boer, Leo A J Kluijtmans, Marleen C D G Huigen

Genet Med· March 2021

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A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.
Joseph J Shen, Jessica L Davis, Xinying Hong, Fred H Laningham, Michael H Gelb

J Pediatr Gastroenterol Nutr· December 2020

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Ingo Helbig, Tania Lopez-Hernandez, Oded Shor, Peter Galer, Shiva Ganesan, Joseph Shen

Am J Hum Genet· June 2019

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Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California.
Joseph J Shen, Jason Carmichael, Leoncio Vásquez Santos

J Genet Couns· August 2018

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Craniofacial osteomyelitis evolving from sinusitis.
Joseph Y Shen, Neal D Futran, Maya G Sardesai

Radiol Case Rep· February 2018

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Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Wan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Joseph Shen

Neuron· January 2017

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