Genome Editing for Mucopolysaccharidoses

por Poletto, Edina, Baldo, Guilherme, Gomez-Ospina, Natalia
Publicado 2020

Editorial: Ex-vivo and in-vivo genome engineering for metabolic and neurometabolic diseases

por Colella, Pasqualina, Meneghini, Vasco, Baldo, Guilherme, Gomez-Ospina, Natalia
Publicado 2023

Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation

por Poletto, Edina, Colella, Pasqualina, Pimentel Vera, Luisa N., Khan, Shaukat, Tomatsu, Shunji, Baldo, Guilherme, Gomez-Ospina, Natalia
Publicado 2022

A Promoter in the Coding Region of the Calcium Channel Gene CACNA1C Generates the Transcription Factor CCAT

por Gomez-Ospina, Natalia, Panagiotakos, Georgia, Portmann, Thomas, Pasca, Sergiu P., Rabah, Dania, Budzillo, Agata, Kinet, Jean Pierre, Dolmetsch, Ricardo E.
Publicado 2013

Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

por Scharenberg, Samantha G., Poletto, Edina, Lucot, Katherine L., Colella, Pasqualina, Sheikali, Adam, Montine, Thomas J., Porteus, Matthew H., Gomez-Ospina, Natalia
Publicado 2020

Author Correction: Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

por Scharenberg, Samantha G., Poletto, Edina, Lucot, Katherine L., Colella, Pasqualina, Sheikali, Adam, Montine, Thomas J., Porteus, Matthew H., Gomez-Ospina, Natalia
Publicado 2020

Building a Professional Identity and an Academic Career Track in Translational Medicine

por van Dijk, Sabine J., Domenighetti, Andrea A., Gomez-Ospina, Natalia, Hunter, Patricia, Lindemans, Caroline A., Melotte, Veerle, van Rossum, Annemarie M. C., Rosenblum, Norman D.
Publicado 2019

CNS Repopulation by Hematopoietic-Derived Microglia-Like Cells Corrects Progranulin deficiency

por Colella, Pasqualina, Sayana, Ruhi, Suarez-Nieto, Maria Valentina, Sarno, Jolanda, Nyame, Kwamina, Xiong, Jian, Vera, Luisa Natalia Pimentel, Basurto, Jessica Arozqueta, Corbo, Marco, Limaye, Anay, Davis, Kara Lynn, Abu-Remaileh, Monther, Gomez-Ospina, Natalia
Publicado 2023

CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

por Dever, Daniel P., Scharenberg, Samantha G., Camarena, Joab, Kildebeck, Eric J., Clark, Joseph T., Martin, Renata M., Bak, Rasmus O., Tang, Yuming, Dohse, Monika, Birgmeier, Johannes A., Jagadeesh, Karthik A., Bejerano, Gill, Tsukamoto, Ann, Gomez-Ospina, Natalia, Uchida, Nobuko, Porteus, Matthew H.
Publicado 2019

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

por Gomez-Ospina, Natalia, Scharenberg, Samantha G., Mostrel, Nathalie, Bak, Rasmus O., Mantri, Sruthi, Quadros, Rolen M., Gurumurthy, Channabasavaiah B., Lee, Ciaran, Bao, Gang, Suarez, Carlos J., Khan, Shaukat, Sawamoto, Kazuki, Tomatsu, Shunji, Raj, Nitin, Attardi, Laura D., Aurelian, Laure, Porteus, Matthew H.
Publicado 2019

A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human haematopoietic stem and progenitor cells

por Vakulskas, Christopher A., Dever, Daniel P., Rettig, Garrett R., Turk, Rolf, Jacobi, Ashley M., Collingwood, Michael A., Bode, Nicole M., McNeill, Matthew S., Yan, Shuqi, Camarena, Joab, Lee, Ciaran M., Park, So Hyun, Wiebking, Volker, Bak, Rasmus O., Gomez-Ospina, Natalia, Pavel-Dinu, Mara, Sun, Wenchao, Bao, Gang, Porteus, Matthew H., Behlke, Mark A.
Publicado 2018

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

por Gomez-Ospina, Natalia, Potter, Carol J., Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L., Picarsic, Jennifer L., Jacobson, Theodora A., Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A. S., Finegold, Milton J., Muzny, Donna M., Boerwinkle, Eric, Lupski, James R., Plon, Sharon E., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Washington, Gabriel C., Porteus, Matthew H., Berquist, William E., Kambham, Neeraja, Singh, Ravinder J., Xia, Fan, Enns, Gregory M., Moore, David D.
Publicado 2016

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

por Blackburn, Alexandria T.M., Bekheirnia, Nasim, Uma, Vanessa C., Corkins, Mark E., Xu, Yuxiao, Rosenfeld, Jill A., Bainbridge, Matthew N., Yang, Yaping, Liu, Pengfei, Madan-Khetarpal, Suneeta, Delgado, Mauricio R., Hudgins, Louanne, Krantz, Ian, Rodriguez-Buritica, David, Wheeler, Patricia G., Al Gazali, Lihadh, Al Shamsi, Aisha Mohamed Saeed Mohamed, Gomez-Ospina, Natalia, Chao, Hsiao-Tuan, Mirzaa, Ghayda M., Scheuerle, Angela E., Kukolich, Mary K, Scaglia, Fernando, Eng, Christine, Willsey, Helen Rankin, Braun, Michael C., Lamb, Dolores J., Miller, Rachel K., Bekheirnia, Mir Reza
Publicado 2019

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

por Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo
Publicado 2021

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

por Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.
Publicado 2021

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

por Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Erin H, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Suri, Mohnish, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza
Publicado 2023