Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

por Poloni, Soraia, dos Santos, Bruna Bento, Chiesa, Ana, Specola, Norma, Pereyra, Marcela, Saborío-Rocafort, Manuel, Salazar, María Florencia, Leal-Witt, María Jesús, Castro, Gabriela, Peñaloza, Felipe, Wong, Sunling Palma, Porras, Ramsés Badilla, Paranza, Lourdes Ortiz, Sanabria, Marta Cristina, Amieva, Marcela Vela, Morales, Marco, Naranjo, Amanda Rocío Caro, Mahfoud, Antonieta, Colmenares, Ana Rosa, Lemes, Aida, Sotillo-Lindo, José Fernando, Perez, Ceila, Rey, Laritza Martínez, Torriente, Georgina María Zayas, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein, Cornejo, Veronica
Publicado 2021

Predicting master transcription factors from pan-cancer expression data

por Reddy, Jessica, Fonseca, Marcos A. S., Corona, Rosario I., Nameki, Robbin, Segato Dezem, Felipe, Klein, Isaac A., Chang, Heidi, Chaves-Moreira, Daniele, Afeyan, Lena K., Malta, Tathiane M., Lin, Xianzhi, Abbasi, Forough, Font-Tello, Alba, Sabedot, Thais, Cejas, Paloma, Rodríguez-Malavé, Norma, Seo, Ji-Heui, Lin, De-Chen, Matulonis, Ursula, Karlan, Beth Y., Gayther, Simon A., Pasaniuc, Bogdan, Gusev, Alexander, Noushmehr, Houtan, Long, Henry, Freedman, Matthew L., Drapkin, Ronny, Young, Richard A., Abraham, Brian J., Lawrenson, Kate
Publicado 2021

Cellular and humoral functional responses after BNT162b2 mRNA vaccination differ longitudinally between naive and subjects recovered from COVID-19

por Lozano-Rodríguez, Roberto, Valentín-Quiroga, Jaime, Avendaño-Ortiz, José, Martín-Quirós, Alejandro, Pascual-Iglesias, Alejandro, Terrón-Arcos, Verónica, Montalbán-Hernández, Karla, Casalvilla-Dueñas, José Carlos, Bergón-Gutiérrez, Marta, Alcamí, José, García-Pérez, Javier, Cascajero, Almudena, García-Garrido, Miguel Ángel, Balzo-Castillo, Álvaro del, Peinado, María, Gómez, Laura, Llorente-Fernández, Irene, Martín-Miguel, Gema, Herrero-Benito, Carmen, Benito, José Miguel, Rallón, Norma, Vela-Olmo, Carmen, López-Morejón, Lissette, Cubillos-Zapata, Carolina, Aguirre, Luis A., Fresno, Carlos del, López-Collazo, Eduardo
Publicado 2022

Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes

por Jiménez-Kaufmann, Andrés, Chong, Amanda Y., Cortés, Adrián, Quinto-Cortés, Consuelo D., Fernandez-Valverde, Selene L., Ferreyra-Reyes, Leticia, Cruz-Hervert, Luis Pablo, Medina-Muñoz, Santiago G., Sohail, Mashaal, Palma-Martinez, María J., Delgado-Sánchez, Gudalupe, Mongua-Rodríguez, Norma, Mentzer, Alexander J., Hill, Adrian V. S., Moreno-Macías, Hortensia, Huerta-Chagoya, Alicia, Aguilar-Salinas, Carlos A., Torres, Michael, Kim, Hie Lim, Kalsi, Namrata, Schuster, Stephan C., Tusié-Luna, Teresa, Del-Vecchyo, Diego Ortega, García-García, Lourdes, Moreno-Estrada, Andrés
Publicado 2022

Focusing on Comorbidity—A Novel Meta-Analytic Approach and Protocol to Disentangle the Specific Neuroanatomy of Co-occurring Mental Disorders

por Fortea, Lydia, Albajes-Eizagirre, Anton, Yao, Yuan-Wei, Soler, Edu, Verdolini, Norma, Hauson, Alexander O., Fortea, Adriana, Madero, Santiago, Solanes, Aleix, Wollman, Scott C., Serra-Blasco, Maria, Wise, Toby, Lukito, Steve, Picó-Pérez, Maria, Carlisi, Christina, Zhang, JinTao, Pan, PingLei, Farré-Colomés, Álvar, Arnone, Danilo, Kempton, Matthew J., Soriano-Mas, Carles, Rubia, Katya, Norman, Luke, Fusar-Poli, Paolo, Mataix-Cols, David, Valentí, Marc, Via, Esther, Cardoner, Narcis, Solmi, Marco, Shin, Jae I., Vieta, Eduard, Radua, Joaquim
Publicado 2022

Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic

por Wynn, Julia, Tavakoli, Norma P., Armstrong, Niki, Gomez, Jacqueline, Koval, Carrie, Lai, Christina, Tang, Stephanie, Quevedo Prince, Andrea, Quevedo, Yeyson, Rufino, Katrina, Palacio Morales, Laura, Pena, Angela, Grossman, Sharon, Monfiletto, Mary, Ruda, Erika, Jimenez, Vania, Verdade, Lorraine, Jones, Ashley, Barriga, Michelle G., Karan, Nandanee, Puma, Alexandria, Sarker, Safa, Chin, Sarah, Duarte, Kelly, Tegay, David H., Bacchus, Irzaud, Julooru, Rajani, Maloney, Breanne, Park, Sunju, Saami, Akilan M., Cohen, Lilian, Shapiro, Natasha, Caggana, Michele, Chung, Wendy K., Gruber, Dorota
Publicado 2022

Longitudinal SARS-CoV-2 RNA wastewater monitoring across a range of scales correlates with total and regional COVID-19 burden in a well-defined urban population

por Acosta, Nicole, Bautista, María A., Waddell, Barbara J., McCalder, Janine, Beaudet, Alexander Buchner, Man, Lawrence, Pradhan, Puja, Sedaghat, Navid, Papparis, Chloe, Bacanu, Andra, Hollman, Jordan, Krusina, Alexander, Southern, Danielle A., Williamson, Tyler, Li, Carmen, Bhatnagar, Srijak, Murphy, Sean, Chen, Jianwei, Kuzma, Darina, Clark, Rhonda, Meddings, Jon, Hu, Jia, Cabaj, Jason L., Conly, John M., Dai, Xiaotian, Lu, Xuewen, Chekouo, Thierry, Ruecker, Norma J., Achari, Gopal, Ryan, M. Cathryn, Frankowski, Kevin, Hubert, Casey R.J., Parkins, Michael D.
Publicado 2022

NGS-Based Molecular Karyotyping of Multiple Myeloma: Results from the GEM12 Clinical Trial

por Rosa-Rosa, Juan Manuel, Cuenca, Isabel, Medina, Alejandro, Vázquez, Iria, Sánchez-delaCruz, Andrea, Buenache, Natalia, Sánchez, Ricardo, Jiménez, Cristina, Rosiñol, Laura, Gutiérrez, Norma C., Ruiz-Heredia, Yanira, Barrio, Santiago, Oriol, Albert, Martin-Ramos, Maria-Luisa, Blanchard, María-Jesús, Ayala, Rosa, Ríos-Tamayo, Rafael, Sureda, Anna, Hernández, Miguel-Teodoro, de la Rubia, Javier, Alkorta-Aranburu, Gorka, Agirre, Xabier, Bladé, Joan, Mateos, María-Victoria, Lahuerta, Juan-José, San-Miguel, Jesús F., Calasanz, María-José, Garcia-Sanz, Ramón, Martínez-Lopez, Joaquín
Publicado 2022

The I.3.2 developmental mutant has a single nucleotide deletion in the gene centromere identifier

por Evans, Cory J., Bieser, Kayla L., Acevedo-Vasquez, Katherine S., Augustine, Emyli J., Bowen, Skyler, Casarez, Veronica A., Feliciano, Vanessa I., Glazier, Ashley, Guinan, Haley R., Hallman, Randy, Haugan, Elizabeth, Hehr, Lauren A., Hunnicutt, Shawna N., Leifer, Isabella, Mauger, Meaghan, Mauger, Morgan, Melendez, Norma Y., Milshteyn, Larry, Moore, Eric, Nguyen, Sarah A., Phanphouvong, Sierra C., Pinal, David M., Pope, Hailee M., Salinas, Mark-Brandon M., Shellin, Matthew, Small, Ivana, Yeoh, Neelufar C., Yokomizo, Alexandra M.K., Kagey, Jacob D.
Publicado 2022

Impaired immune signaling and changes in the lung microbiome precede secondary bacterial pneumonia in COVID-19

por Tsitsiklis, Alexandra, Zha, Beth Shoshana, Byrne, Ashley, Devoe, Catherine, Levan, Sophia, Rackaityte, Elze, Sunshine, Sara, Mick, Eran, Ghale, Rajani, Jauregui, Alejandra, Sarma, Aartik, Neff, Norma, Serpa, Paula Hayakawa, Deiss, Thomas J., Kistler, Amy, Carrillo, Sidney, Ansel, K. Mark, Leligdowicz, Aleksandra, Christenson, Stephanie, Jones, Norman, Wu, Bing, Darmanis, Spyros, Matthay, Michael A., Lynch, Susan V., DeRisi, Joseph L., Hendrickson, Carolyn M., Kangelaris, Kirsten N., Krummel, Matthew F., Woodruff, Prescott G., Erle, David J., Rosenberg, Oren, Calfee, Carolyn S., Langelier, Charles R.
Publicado 2021

Autoimmunity affecting the biliary tract fuels the immunosurveillance of cholangiocarcinoma

por Paillet, Juliette, Plantureux, Céleste, Lévesque, Sarah, Le Naour, Julie, Stoll, Gautier, Sauvat, Allan, Caudana, Pamela, Tosello Boari, Jimena, Bloy, Norma, Lachkar, Sylvie, Martins, Isabelle, Opolon, Paule, Checcoli, Andrea, Delaune, Agathe, Robil, Noémie, de la Grange, Pierre, Hamroune, Juliette, Letourneur, Franck, Autret, Gwennhael, Leung, Patrick S.C., Gershwin, M. Eric, Zhu, Jie S., Kurth, Mark J., Lekbaby, Bouchra, Augustin, Jérémy, Kim, Youra, Gujar, Shashi, Coulouarn, Cédric, Fouassier, Laura, Zitvogel, Laurence, Piaggio, Eliane, Housset, Chantal, Soussan, Patrick, Maiuri, Maria Chiara, Kroemer, Guido, Pol, Jonathan G.
Publicado 2021

Loss of Non-motor Kinesin KIF26A Causes Congenital Brain Malformations via Dysregulated Neuronal Migration and Axonal Growth as well as Apoptosis

por Qian, Xuyu, DeGennaro, Ellen M., Talukdar, Maya, Akula, Shyam K., Lai, Abbe, Shao, Diane D., Gonzalez, Dilenny, Marciano, Jack H., Smith, Richard S., Hylton, Norma K., Yang, Edward, Bazan, J. Fernando, Barrett, Lee, Yeh, Rebecca C., Hill, R Sean, Beck, Samantha, Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E., Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C., Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S., Barnett, Christopher P., Arts, Peer, Sherr, Elliott H., Lupski, James R., Walsh, Christopher A.
Publicado 2022

Male Sex Is Independently Associated with Faster Disability Accumulation in Relapse-Onset MS but Not in Primary Progressive MS

por Ribbons, Karen Ann, McElduff, Patrick, Boz, Cavit, Trojano, Maria, Izquierdo, Guillermo, Duquette, Pierre, Girard, Marc, Grand’Maison, Francois, Hupperts, Raymond, Grammond, Pierre, Oreja-Guevara, Celia, Petersen, Thor, Bergamaschi, Roberto, Giuliani, Giorgio, Barnett, Michael, van Pesch, Vincent, Amato, Maria-Pia, Iuliano, Gerardo, Fiol, Marcela, Slee, Mark, Verheul, Freek, Cristiano, Edgardo, Fernandez-Bolanos, Ricardo, Saladino, Maria-Laura, Rio, Maria Edite, Cabrera-Gomez, Jose, Butzkueven, Helmut, van Munster, Erik, Den Braber-Moerland, Leontien, La Spitaleri, Daniele, Lugaresi, Alessandra, Shaygannejad, Vahid, Gray, Orla, Deri, Norma, Alroughani, Raed, Lechner-Scott, Jeannette
Publicado 2015