Publications by authors named "Joy Dean"

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DLG2 intragenic exonic deletions reinforce the link to neurodevelopmental disorders and suggest a potential association with congenital anomalies and dysmorphism.
Yunjia Chen, Ender Karaca, Nathaniel H Robin, Dana Goodloe, Ali Al-Beshri, S Joy Dean

Genet Med· January 2024

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An Early Case of Complete Androgen Insensitivity Syndrome.
Leen Matalka, S Joy Dean, Giovanna Beauchamp, Bhuvana Sunil

J Investig Med High Impact Case Rep· March 2023

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Treatment of ARS deficiencies with specific amino acids.
Gautam Kok, Laura Tseng, Imre F Schene, Monique E Dijsselhof, Gajja Salomons, Joy Dean

Genet Med· November 2021

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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F Palafox, Angela Wei, S Joy Dean

Mol Genet Genomic Med· October 2021

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Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.
Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, John Dean, Joy Dean

Sci Adv· December 2020

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Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
Aditi Dhir, Rong Li, Geling Li, Joy Dean, Nathaniel H Robin

Pediatr Blood Cancer· March 2020

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