Atypical ATMs : Broadening the phenotypic spectrum of ATM -associated hereditary cancer
Borja, Nicholas A, Silva-Smith, Rachel, Huang, Marilyn, Parekh, Dipen J, Sussman, Daniel, Tekin, Mustafa
Published in Frontiers in oncology (14.02.2023)
Published in Frontiers in oncology (14.02.2023)
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Selective impact of CDK4/6 suppression on patient-derived models of pancreatic cancer
Witkiewicz, Agnieszka K, Borja, Nicholas A, Franco, Jorge, Brody, Jonathan R, Yeo, Charles J, Mansour, John, Choti, Michael A, McCue, Peter, Knudsen, Erik S
Published in Oncotarget (30.06.2015)
Published in Oncotarget (30.06.2015)
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Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network
Borja, Nicholas A, Tinker, Rory J, Bivona, Stephanie A, Smith, Carson A, Locker, Theodore Krijnse, Fernandes, Samuela, Phillips, 3rd, John A, Stoler, Justin, Taylor, Herman, Zuchner, Stephan, Tekin, Mustafa
Published in American journal of medical genetics. Part A (14.10.2024)
Published in American journal of medical genetics. Part A (14.10.2024)
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L E Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Journal Article
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Layo-Carris, Dana E, Lubin, Emily E, Sangree, Annabel K, Clark, Kelly J, Durham, Emily L, Gonzalez, Elizabeth M, Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I, Nowaczyk, M J M, Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K, Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y, Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M, Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A, Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R Frank, Meuwissen, Marije, Cocanougher, Benjamin T, Taylor, Kathryn, Pizoli, Carolyn E, McDonald, Marie T, James, Philip, Roeder, Elizabeth R, Littlejohn, Rebecca, Borja, Nicholas A, Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L E, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J K, Bryant, Laura M
Published in European journal of human genetics : EJHG (01.08.2024)
Published in European journal of human genetics : EJHG (01.08.2024)
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Coffin-Siris syndrome and cancer susceptibility
Borja, Nicholas A., Schrier Vergano, Samantha A., Tekin, Mustafa
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
Rebelo, Adriana P., Jeanne, Médéric, Danzi, Matt C., Tekin, Mustafa, Acosta, Maria T., Andrews, Ashley, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak‐Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Butte, Manish J., Byrd, William E., Cassini, Thomas, Chao, Hsiao‐Tuan, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Corner, Brian, Dai, Hongzheng, Davis, Joie, Delgado, Margaret, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Glass, Ian, Gropman, Andrea, Halley, Meghan C., Hassey, Kelly, Hayes, Nichole, Horike‐Pyne, Martha, Huang, Alden, Izumi, Kosuke, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Ketkar, Shamika, Kohler, Jennefer N., Kravets, Elijah, Lalani, Seema R., Latchman, Kumarie, LeBlanc, Kimberly, Lewis, Richard A., Liu, Pengfei, Loo, Sandra K., MacRae, Calum A., Maghiro, AudreyStephannie C., Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Marth, Gabor, Martínez‐Agosto, Julian A., McConkie‐Rosell, Allyn, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Papp, Jeanette C., Petcharet, Leoyklang, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Rosenfeld, Jill A., Sabaii, Marla, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Smith, Edward C., Smith, Carson A., Smith, Kevin S., Solomon, Ben, Stergachis, Andrew, Sullivan, Kathleen, Tabor, Holly K., Tan, Queenie K.‐G., Thorson, Willa, Viskochil, Dave, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Worley, Kim
Published in Annals of clinical and translational neurology (01.04.2024)
Published in Annals of clinical and translational neurology (01.04.2024)
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
Dohrn, Maike F, Bademci, Guney, Rebelo, Adriana P, Jeanne, Médéric, Borja, Nicholas A, Beijer, Danique, Danzi, Matt C, Bivona, Stephanie A, Gueguen, Paul, Zafeer, Mohammad F, Tekin, Mustafa, Züchner, Stephan
Published in Annals of clinical and translational neurology (01.04.2024)
Published in Annals of clinical and translational neurology (01.04.2024)
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