Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
Cox, Allison J, Darbro, Benjamin W, Laxer, Ronald M, Velez, Gabriel, Bing, Xinyu, Finer, Alexis L, Erives, Albert, Mahajan, Vinit B, Bassuk, Alexander G, Ferguson, Polly J
Published in PloS one (16.03.2017)
Published in PloS one (16.03.2017)
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Journal Article
Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses
Schaefer, Kellie A, Toral, Marcus A, Velez, Gabriel, Cox, Allison J, Baker, Sheila A, Borcherding, Nicholas C, Colgan, Diana F, Bondada, Vimala, Mashburn, Charles B, Yu, Chen-Guang, Geddes, James W, Tsang, Stephen H, Bassuk, Alexander G, Mahajan, Vinit B
Published in Investigative ophthalmology & visual science (01.05.2016)
Published in Investigative ophthalmology & visual science (01.05.2016)
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Journal Article
Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
Cox, Allison J, Darbro, Benjamin W, Laxer, Ronald M, Velez, Gabriel, Bing, Xinyu, Finer, Alexis L, Erives, Albert, Mahajan, Vinit B, Bassuk, Alexander G, Ferguson, Polly J
Published in PloS one (07.07.2017)
Published in PloS one (07.07.2017)
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Journal Article
Chronic Recurrent Multifocal Osteomyelitis and Related Diseases—Update on Pathogenesis
Cox, Allison J., Zhao, Yongdong, Ferguson, Polly J.
Published in Current rheumatology reports (01.04.2017)
Published in Current rheumatology reports (01.04.2017)
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Journal Article
Clinicopathologic and Molecular Characterization of Anorectal Neuroendocrine Carcinomas Reveals Human Papillomavirus, p53 and c-Myc as Alternative Mechanisms of Carcinogenesis
Cox, Allison J., Crowe, William E., Yang, Qi, Zhang, Bin, Oltvai, Zoltan N., Liao, Xiaoyan
Published in Modern pathology (01.11.2023)
Published in Modern pathology (01.11.2023)
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Journal Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner, Kelly M., Cox, Allison J., Qian, Emily, Jain, Preti, Ji, Weizhen, Tikhonova, Irina, Castaldi, Christopher, Bilguvar, Kaya, Knight, James, Ferdinandusse, Sacha, Fawaz, Rima, Jiang, Yong‐Hui, Gallagher, Patrick G., Bizzarro, Matthew, Gruen, Jeffrey R., Bale, Allen, Zhang, Hui
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth
Cox, Allison J, Grady, Fillan, Velez, Gabriel, Mahajan, Vinit B, Ferguson, Polly J, Kitchen, Andrew, Darbro, Benjamin W, Bassuk, Alexander G
Published in Genetical research (13.06.2019)
Published in Genetical research (13.06.2019)
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Journal Article
Activation of the p38 MAPK/Akt/ERK1/2 signal pathways is required for the protein stabilization of CDC6 and cyclin D1 in low-dose arsenite-induced cell proliferation
Liu, Youhong, Hock, Janet M., Sullivan, Con, Fang, Geying, Cox, Allison J., Davis, Kathleen T., Davis, Bruce H., Li, Xiong
Published in Journal of cellular biochemistry (15.12.2010)
Published in Journal of cellular biochemistry (15.12.2010)
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Journal Article
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked
Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J. Robert, Bassuk, Alexander G
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase: e1005022
Paemka, Lily, Mahajan, Vinit B, Ehaideb, Salleh N, Skeie, Jessica M, Tan, Men Chee, Wu, Shu, Cox, Allison J, Sowers, Levi P, Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J, Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather C, El-Shanti, Hatem, Wood, Stephen A, Manak, J Robert, Bassuk, Alexander G
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Journal Article
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner, Kelly M, Cox, Allison J, Qian, Emily, Jain, Preti, Ji, Weizhen, Tikhonova, Irina, Castaldi, Christopher, Bilguvar, Kaya, Knight, James, Ferdinandusse, Sacha, Fawaz, Rima, Jiang, Yong-Hui, Gallagher, Patrick G, Bizzarro, Matthew, Gruen, Jeffrey R, Bale, Allen, Zhang, Hui
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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