SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression
Doucet-O’Hare, Tara T., DiSanza, Brianna L., DeMarino, Catherine, Atkinson, Abigail L., Rosenblum, Jared S., Henderson, Lisa J., Johnson, Kory R., Kowalak, Jeffrey, Garcia-Montojo, Marta, Allen, Sariah J., Orr, Brent A., Santi, Mariarita, Wang, Tongguang, Fathi, Saeed, Lee, Myoung Hwa, Sampson, Kevon, Li, Wenxue, Zhuang, Zhengping, Nath, Avindra
Published in Scientific reports (18.06.2021)
Published in Scientific reports (18.06.2021)
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KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Gracia-Diaz, Carolina, Perdomo, Jonathan E., Khan, Munir E., Roule, Thomas, Disanza, Brianna L., Cajka, Gregory G., Lei, Sunyimeng, Gagne, Alyssa L., Maguire, Jean Ann, Shalem, Ophir, Bhoj, Elizabeth J., Ahrens-Nicklas, Rebecca C., French, Deborah L., Goldberg, Ethan M., Wang, Kai, Glessner, Joseph T., Akizu, Naiara
Published in Cell stem cell (07.03.2024)
Published in Cell stem cell (07.03.2024)
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TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression
Garcia-Montojo, Marta, Fathi, Saeed, Rastegar, Cyrus, Simula, Elena Rita, Doucet-O'Hare, Tara, Cheng, Y H Hank, Abrams, Rachel P M, Pasternack, Nicholas, Malik, Nasir, Bachani, Muzna, Disanza, Brianna, Maric, Dragan, Lee, Myoung-Hwa, Wang, Herui, Santamaria, Ulisses, Li, Wenxue, Sampson, Kevon, Lorenzo, Juan Ramiro, Sanchez, Ignacio E, Mezghrani, Alexandre, Li, Yan, Sechi, Leonardo Antonio, Pineda, Sebastian, Heiman, Myriam, Kellis, Manolis, Steiner, Joseph, Nath, Avindra
Published in Nature communications (16.05.2024)
Published in Nature communications (16.05.2024)
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BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS
Disanza, Brianna, Angireddy, Rajesh, Welter, Emma, Helman, Guy, Simons, Cas, Taft, Ryan, Vanderver, Adeline, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca
Published in IBRO neuroscience reports (01.10.2023)
Published in IBRO neuroscience reports (01.10.2023)
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BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) AS A NOVEL CANDIDATE GENE FOR PEDIATRIC NEURODEGENERATION
DiSanza, Brianna, Simons, Cas, Helman, Guy, Taft, Ryan, Vanderver, Adeline, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca
Published in Molecular genetics and metabolism (01.03.2023)
Published in Molecular genetics and metabolism (01.03.2023)
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Regulation of stem cell function and neuronal differentiation by HERV-K via mTOR pathway
Wang, Tongguang, Medynets, Marie, Johnson, Kory R., Doucet-O’Hare, Tara T., DiSanza, Brianna, Li, Wenxue, Xu, Yadi, Bagnell, Anna, Tyagi, Richa, Sampson, Kevon, Malik, Nasir, Steiner, Joseph, Hadegan, Alina, Kowalak, Jeffrey, O’Malley, James, Maric, Dragan, Nath, Avindra
Published in Proceedings of the National Academy of Sciences - PNAS (28.07.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (28.07.2020)
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CSIG-24. TARGETED INHIBITION OF CDK5-MEDIATED REGULATION OF HUMAN ENDOGENOUS RETROVIRUS K (HML-2) ENVELOPE PROTEIN IN ATYPICAL TERATOID RHABDOID TUMOR
Doucet-O'Hare, Tara, Rosenblum, Jared, DiSanza, Brianna, DeMarino, Catherine, Atkinson, Abigail, Malik, Nasir, Steiner, Joe, Pant, Harish, Nath, Avindra, Zhuang, Zhengping
Published in Neuro-oncology (Charlottesville, Va.) (12.11.2021)
Published in Neuro-oncology (Charlottesville, Va.) (12.11.2021)
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Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy
Gonzalez, Carlos Dominguez, Sanderson, Leslie E., Depace, Raffaella, Helman, Guy, Wu, Kaiyuan, Disanza, Brianna, Pizzino, Amy, Schmidt, Johanna, Muirhead, Kayla, Bonkowsky, Joshua, Taft, Ryan, Sannaa, Nouriya, Dias, Patrícia, Mutlu, Mehmet Burak, Bertoli-Avella, Aida M., Maroofian, Reza, Barakat, Tahsin Stefan, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca, Simons, Cas, Wolvetang, Ernst, Sack, Michael N., van Ham, Tjakko, Hsiao-Sánchez, Nicole, Bonifacino, Juan S., Vanderver, Adeline
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
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High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs
Gracia-Diaz, Carolina, Perdomo, Jonathan E, Khan, Munir E, Disanza, Brianna, Cajka, Gregory G, Lei, Sunyimeng, Gagne, Alyssa, Maguire, Jean Ann, Roule, Thomas, Shalem, Ophir, Bhoj, Elizabeth J, Ahrens-Nicklas, Rebecca C, French, Deborah, Goldberg, Ethan M, Wang, Kai, Glessner, Joseph, Akizu, Naiara
Published in bioRxiv : the preprint server for biology (26.06.2023)
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Published in bioRxiv : the preprint server for biology (26.06.2023)
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