Lessons from the Crystal Structure of the S. aureus Surface Protein Clumping Factor A in Complex With Tefibazumab, an Inhibiting Monoclonal Antibody()

por Ganesh, Vannakambadi K., Liang, Xiaowen, Geoghegan, Joan A., Cohen, Ana Luisa V., Venugopalan, Nagarajan, Foster, Timothy J, Hook, Magnus
Publicado 2016

Molecular analysis of the emergence of pandemic Vibrio parahaemolyticus

por Boyd, E Fidelma, Cohen, Ana Luisa V, Naughton, Lynn M, Ussery, David W, Binnewies, Tim T, Stine, O Colin, Parent, Michelle A
Publicado 2008

Long-term outcome after bilateral adrenalectomy in Cushing’s disease with focus on Nelson’s syndrome

por Cohen, Ana C., Goldney, Dolores Clifton, Danilowicz, Karina, Manavela, Marcos, Rossi, María A., Gómez, Reynaldo M., Cross, Graciela E., Bruno, Oscar D.
Publicado 2019

Loss of maternal EED results in postnatal overgrowth

por Prokopuk, Lexie, Stringer, Jessica M., White, Craig R., Vossen, Rolf H. A. M., White, Stefan J., Cohen, Ana S. A., Gibson, William T., Western, Patrick S.
Publicado 2018

Native bacteria isolated from roots and rhizosphere of Solanum lycopersicum L. increase tomato seedling growth under a reduced fertilization regime

por Pérez-Rodriguez, María Micaela, Piccoli, Patricia, Anzuay, María Soledad, Baraldi, Rita, Neri, Luisa, Taurian, Tania, Lobato Ureche, Miguel Andrés, Segura, Diana María, Cohen, Ana Carmen
Publicado 2020

Burden of Disease in Patients With Tumor‐Induced Osteomalacia

por Jerkovich, Fernando, Nuñez, Selva, Mocarbel, Yamile, Pignatta, Analía, Elías, Natalia, Cassinelli, Hamilton, Díaz, Adriana Graciela, Vigovich, Carlos, Balonga, María Celeste, Cohen, Ana Carolina, Mumbach, Giselle, Gonzalez, Sofía, Zanchetta, José Rubén, Zanchetta, María Belén
Publicado 2020

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection

por Thiffault, Isabelle, Farrow, Emily, Cohen, Ana, Zion, Tricia, Neal, Shelby, Cheung, Warren, Johnston, Jeffrey, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, Nair, Annapoorna, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Pastinen, Tomi
Publicado 2021

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

por Singh, Ram, Cohen, Ana S.A., Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A., Azmanov, Dimitar N., Woodward, Karen J., Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A., Jabs, Ethylin Wang
Publicado 2021

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

por Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.
Publicado 2016

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

por Cheung, Warren A., Johnson, Adam F., Rowell, William J., Farrow, Emily, Hall, Richard, Cohen, Ana S. A., Means, John C., Zion, Tricia N., Portik, Daniel M., Saunders, Christopher T., Koseva, Boryana, Bi, Chengpeng, Truong, Tina K., Schwendinger-Schreck, Carl, Yoo, Byunggil, Johnston, Jeffrey J., Gibson, Margaret, Evrony, Gilad, Rizzo, William B., Thiffault, Isabelle, Younger, Scott T., Curran, Tom, Wenger, Aaron M., Grundberg, Elin, Pastinen, Tomi
Publicado 2023

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

por Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna
Publicado 2020

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2018

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019