Endothelial dysfunction and preeclampsia: role of oxidative stress

por Sánchez-Aranguren, Lissette C., Prada, Carlos E., Riaño-Medina, Carlos E., Lopez, Marcos
Publicado 2014

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

por McTiernan, Nina, Gill, Harinder, Prada, Carlos E., Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas
Publicado 2020

Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study Protocol

por Rincon, Melvin Y, Prada, Carlos E, Lopez, Marcos, Castillo, Victor, Echeverria, Luis Eduardo, Serrano, Norma
Publicado 2016

Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon

por Talley, Mary Jo, Nardini, Diana, Shabbir, Nisha, Ehrman, Lisa A., Prada, Carlos E., Waclaw, Ronald R.
Publicado 2021

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

por Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet
Publicado 2021

Stx4 is required to regulate cardiomyocyte Ca(2+) handling during vertebrate cardiac development

por Perl, Eliyahu, Ravisankar, Padmapriyadarshini, Beerens, Manu E., Mulahasanovic, Lejla, Smallwood, Kelly, Sasso, Marion Bermúdez, Wenzel, Carina, Ryan, Thomas D., Komár, Matej, Bove, Kevin E., MacRae, Calum A., Weaver, K. Nicole, Prada, Carlos E., Waxman, Joshua S.
Publicado 2022

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

por Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.
Publicado 2021

Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

por Koopmann, Tamara T., Jamshidi, Yalda, Naghibi-Sistani, Mohammad, van der Klift, Heleen M., Birjandi, Hassan, Al-Hassnan, Zuhair, Alwadai, Abdullah, Zifarelli, Giovanni, Karimiani, Ehsan G., Sedighzadeh, Sahar, Bahreini, Amir, Nouri, Nayereh, Peter, Merlene, Watanabe, Kyoko, van Duyvenvoorde, Hermine A., Ruivenkamp, Claudia A. L., Teunissen, Aalbertine K. K., Ten Harkel, Arend D. J., van Duinen, Sjoerd G., Haak, Monique C., Prada, Carlos E., Santen, Gijs W. E., Maroofian, Reza
Publicado 2022

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

por Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.
Publicado 2021

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

por Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Publicado 2019

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado 2015

POLRMT mutations impair mitochondrial transcription causing neurological disease

por Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J., McBride, Kim L., Bowden, Sasigarn A., Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole, Prada, Carlos E., Õunap, Katrin, Wojcik, Monica H., Pajusalu, Sander, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B., Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M., Taylor, Robert W.
Publicado 2021

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado 2015

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

por Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza
Publicado 2023

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

por Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A., Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P. A., Prada, Carlos E., Hopkin, Robert J., Shieh, Joseph T., McWalter, Kirsty, Monaghan, Kristin G., van Hasselt, Peter M., van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A., Lalani, Seema R., Azamian, Mahshid, Mancini, Grazia M. S., Adams, Darius J., Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A., Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A., de Vries, Bert B. A., Bernier, Raphael A., Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B., Eichler, Evan E., Xia, Kun
Publicado 2019