Search Results - "Borja, Nicholas"

Atypical ATMs : Broadening the phenotypic spectrum of ATM -associated hereditary cancer by Borja, Nicholas A, Silva-Smith, Rachel, Huang, Marilyn, Parekh, Dipen J, Sussman, Daniel, Tekin, Mustafa

“…Heterozygous, loss-of-function germline variants in have been associated with an increased lifetime risk of breast, pancreas, prostate, stomach, ovarian,…”
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Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network by 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

“…Rare diseases affect 6%-8% of the population and present diagnostic challenges, particularly for historically marginalized ethnic and racial groups. The…”
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Selective impact of CDK4/6 suppression on patient-derived models of pancreatic cancer by Witkiewicz, Agnieszka K, Borja, Nicholas A, Franco, Jorge, Brody, Jonathan R, Yeo, Charles J, Mansour, John, Choti, Michael A, McCue, Peter, Knudsen, Erik S

“…Pancreatic ductal adenocarcinoma (PDA) harbors an exceedingly poor prognosis, and is generally considered a therapy-recalcitrant disease due to poor response…”
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P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome by Catena, Sofia, Gonzalez, Joanna, Maddy, Krisna, Rodier, Matthew, Borja, Nicholas

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by 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

“…Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode…”
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals by 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

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O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) by Bivona, Stephanie, Smith, Carson, Bademci, Guney, Peart, LéShon, Gonzalez, Joanna, Borja, Nicholas, Zuchner, Stephan, Tekin, Mustafa

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P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site by Bademci, Guney, Bivona, Stephanie, Peart, LeShon, Johnson, Brittney, Gonzalez, Joanna, Borja, Nicholas, Borjas Mendoza, Paulo, Forghani, Irman, Barbouth, Deborah, Latchman, Kumarie, Thorson, Willa, Guo, Shengru, Smith, Carson, Zuchner, Stephan, Tekin, Mustafa

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P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site by Bivona, Stephanie, Tekin, Mustafa, Bademci, Guney, Smith, Carson, Peart, LeShon, Johnson, Brittney, Gonzalez, Joanna, Borja, Nicholas, Borjas Mendoza, Paulo, Forghani, Irman, Barbouth, Deborah, Latchman, Kumarie, Thorson, Willa, Guo, Shengru, Zuchner, Stephan

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Coffin-Siris syndrome and cancer susceptibility by Borja, Nicholas A., Schrier Vergano, Samantha A., Tekin, Mustafa

“…Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic…”
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Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome by Borja, Nicholas, Zafeer, Mohammad Faraz, Rodriguez, Jeimy Alfonso, Morel Swols, Dayna, Thorson, Willa, Bademci, Guney, Tekin, Mustafa

“…Phenotypic features of KBG syndrome include craniofacial anomalies, short stature, cognitive disability and behavioral findings. The syndrome is caused by…”
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Impact of infectious complications on long-term survival following colorectal cancer surgery by Mokdad, Ali, Hirsch, Hannah, Nassour, Ibrahim, Borja, Nicholas, Balch, Glen C., Polanco, Patricio

“…Abstract only 531 Background: Colorectal cancer surgery is associated with significant postoperative morbidity, which may have long-term implications on…”
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Perioperative outcomes for robotic total mesorectal excision after preoperative chemoradiation for rectal cancer by Nassour, Ibrahim, Borja, Nicholas, El-Mokdad, Ali, Hirsch, Hannah, Meyer, Jeffrey John, Polanco, Patricio, Balch, Glen C.

“…Abstract only 732 Background: Laparoscopic total mesorectal excision (TME) after preoperative chemoradiation therapy (P-CRT) for mid to low rectal cancer was…”
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Impact of weight change during neoadjuvant chemotherapy on pathologic response in triple‐negative breast cancer by Bao, Jean, Borja, Nicholas, Rao, Madhu, Huth, James, Leitch, A. Marilyn, Rivers, Aeisha, Wooldridge, Rachel, Rao, Roshni

“…Triple‐negative breast cancer (TNBC) is an uncommon but aggressive subtype of breast cancer. Obesity has been associated with an increased risk of breast…”
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Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease by Adams, David R., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Beck, Anita, Berg‐Rood, Beverly, Berry, Gerard T., Brokamp, Elly, Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chang, Ta Chen Peter, Coakley, Terra R., Colley, Heather A., Cooper, Cynthia M., Dasari, Surendra, Dayal, Jyoti G., Duncan, Laura, Eng, Christine M., Esteves, Cecilia, Fernandez, Liliana, Fieg, Elizabeth L., Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden‐Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Kohane, Isaac S., Kohler, Jennefer N., Kravets, Elijah, Lam, Byron, Lam, Christina, Lee, Hane, Levitt, Roy, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martínez‐Agosto, Julian A., McCauley, Jacob, McConkie‐Rosell, Allyn, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Mosbrook‐Davis, Deborah, Nagy, Anna, Nelson, Stan F., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pallais, J. Carl, Parker, Neil H., Phillips, John A., Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Rao, Deepak A., Robertson, Amy K., Rosenwasser, Natalie, Rossignol, Francis, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Scott, Daryl A., Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Solem, Emily, Stoler, Joan M., Sullivan, Jennifer A., Tifft, Cynthia J., Toro, Camilo, Vanderver, Adeline, Vogel, Tiphanie P., Walker, Melissa, Wambach, Jennifer, Wang, Lee‐kai, Ward, Patricia A., Wegner, Daniel, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Woods, Jeremy D., Yang, John

“…Neurodegenerative disorders and leukodystrophies are progressive neurologic conditions that can occur following the disruption of intricately coordinated…”
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism by 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

“…ATP1A1 encodes a sodium‐potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the…”
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism by 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

“…ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the…”
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