The Zebrafish Embryo as a Dynamic Model of Anoxia Tolerance

Por Mendelsohn, Bryce A., Kassebaum, Bethany L., Gitlin, Jonathan D.
Publicado em 2008

In vivo correction of a Menkes disease model using antisense oligonucleotides

Por Madsen, Erik C., Morcos, Paul A., Mendelsohn, Bryce A., Gitlin, Jonathan D.
Publicado em 2008

Proteomic Analysis of Anoxia Tolerance in the Developing Zebrafish Embryo

Por Mendelsohn, Bryce A., Malone, James P., Townsend, R. Reid, Gitlin, Jonathan D.
Publicado em 2008

Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation

Por Mendelsohn, Bryce A., Mehta, Neil, Hameed, Bilal, Pekmezci, Melike, Packman, Seymour, Ralph, Jeffrey
Publicado em 2013

Promotion of Cell Viability and Histone Gene Expression by the Acetyltransferase Gcn5 and the Protein Phosphatase PP2A in Saccharomyces cerevisiae

Por Petty, Emily L., Lafon, Anne, Tomlinson, Shannon L., Mendelsohn, Bryce A., Pillus, Lorraine
Publicado no Genetics (2016)

Essential role of lysyl oxidases in notochord development

Por Gansner, John M., Mendelsohn, Bryce A., Hultman, Keith A., Johnson, Stephen L., Gitlin, Jonathan D.
Publicado em 2007

Genetic and biochemical interactions between SCP160 and EAP1 in yeast

Por Mendelsohn, Bryce A., Li, Ai-min, Vargas, Claudia A., Riehman, Kristen, Watson, Alice, Fridovich-Keil, Judith L.
Publicado em 2003

Congenital Sodium Diarrhea and Chorioretinal Coloboma with Optic Disc Coloboma in a Patient with Biallelic SPINT2 Mutations, including p.(Tyr163Cys)

Por Hirabayashi, Kristin E., Moore, Anthony T., Mendelsohn, Bryce A., Taft, Ryan J, Chawla, Aditi, Perry, Denise, Henry, Duncan, Slavotinek, Anne
Publicado no Am J Med Genet A (2018)

Cobalamin D Deficiency Identified Through Newborn Screening

Por Abu-El-Haija, Aya, Mendelsohn, Bryce A., Duncan, Jacque L., Moore, Anthony T., Glenn, Orit A., Weisiger, Kara, Gallagher, Renata C.
Publicado no JIMD Rep (2018)

The Role of Mitochondrially Derived ATP in Synaptic Vesicle Recycling

Por Pathak, Divya, Shields, Lauren Y., Mendelsohn, Bryce A., Haddad, Dominik, Lin, Wei, Gerencser, Akos A., Kim, Hwajin, Brand, Martin D., Edwards, Robert H., Nakamura, Ken
Publicado no J Biol Chem (2015)

A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure

Por Mendelsohn, Bryce A., Bennett, Neal K., Darch, Maxwell A., Yu, Katharine, Nguyen, Mai K., Pucciarelli, Daniela, Nelson, Maxine, Horlbeck, Max A., Gilbert, Luke A., Hyun, William, Kampmann, Martin, Nakamura, Jean L., Nakamura, Ken
Publicado no PLoS Biol (2018)

Defining the ATPome reveals cross-optimization of metabolic pathways

Por Bennett, Neal K., Nguyen, Mai K., Darch, Maxwell A., Nakaoka, Hiroki J., Cousineau, Derek, ten Hoeve, Johanna, Graeber, Thomas G., Schuelke, Markus, Maltepe, Emin, Kampmann, Martin, Mendelsohn, Bryce A., Nakamura, Jean L., Nakamura, Ken
Publicado no Nat Commun (2020)

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B

Por Punwani, Divya, Zhang, Yong, Yu, Jason, Cowan, Morton J., Rana, Sadhna, Kwan, Antonia, Adhikari, Aashish N., Lizama, Carlos O., Mendelsohn, Bryce A., Fahl, Shawn P., Chellappan, Ajithavalli, Srinivasan, Rajgopal, Brenner, Steven E., Wiest, David L., Puck, Jennifer M.
Publicado no N Engl J Med (2016)

Exome Sequencing in 32 Patients with Anophthalmia/Microphthalmia and Developmental Eye Defects

Por Slavotinek, Anne M., Garcia, Sarah T., Chandratillake, Gemma, Bardakjian, Tanya, Ullah, Ehsan, Wu, Di, Umeda, Kyle, Lao, Richard, Tang, Paul Ling-Fung, Wan, Eunice, Madireddy, Lohith, Lyalina, Svetlana, Mendelsohn, Bryce A., Dugan, Sarah, Tirch, Jean, Tischler, Reana, Harris, Jason, Clark, Michael J., Chervitz, Stephen, Patwardhan, Anil, West, John M., Ursell, Phillip, de Alba Campomanes, Alejandra, Schneider, Adele, Kwok, Pui-yan, Baranzini, Sergio, Chen, Richard O.
Publicado no Clin Genet (2015)

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de...

Por Slavotinek, Anne, Risolino, Maurizio, Losa, Marta, Cho, Megan T, Monaghan, Kristin G, Schneidman-Duhovny, Dina, Parisotto, Sarah, Herkert, Johanna C, Stegmann, Alexander P A, Miller, Kathryn, Shur, Natasha, Chui, Jacqueline, Muller, Eric, DeBrosse, Suzanne, Szot, Justin O, Chapman, Gavin, Pachter, Nicholas S, Winlaw, David S, Mendelsohn, Bryce A, Dalton, Joline, Sarafoglou, Kyriakie, Karachunski, Peter I, Lewis, Jane M, Pedro, Helio, Dunwoodie, Sally L, Selleri, Licia, Shieh, Joseph
Publicado no Hum Mol Genet (2017)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Por Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
Publicado no Ann Clin Transl Neurol (2019)

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Por Yan, Kezhi, Rousseau, Justine, Machol, Keren, Cross, Laura A., Agre, Katherine E., Gibson, Cynthia Forster, Goverde, Anne, Engleman, Kendra L., Verdin, Hannah, De Baere, Elfride, Potocki, Lorraine, Zhou, Dihong, Cadieux-Dion, Maxime, Bellus, Gary A., Wagner, Monisa D., Hale, Rebecca J., Esber, Natacha, Riley, Alan F., Solomon, Benjamin D., Cho, Megan T., McWalter, Kirsty, Eyal, Roy, Hainlen, Meagan K., Mendelsohn, Bryce A., Porter, Hillary M., Lanpher, Brendan C., Lewis, Andrea M., Savatt, Juliann, Thiffault, Isabelle, Callewaert, Bert, Campeau, Philippe M., Yang, Xiang-Jiao
Publicado no Sci Adv (2020)

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Por Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul-Rahman, Omar, Suckow, Vanessa, Fernández-Jaén, Alberto, van Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al-Nasiry, Salwan, van Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.
Publicado no Hum Mutat (2019)

Clinical spectrum of STX1B-related epileptic disorders

Por Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Publicado no Neurology (2019)

SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals.

Por Ng, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Hon-Yin Chung, Brian, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dorrani, Naghmeh, Dobyns, William B., Elias, Abdallah F., Epstein, Leon, Gahl, William A., Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher C.Y., McKnight, Dianalee, Mendelsohn, Bryce A., Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F., Olczak, Mariusz, Palmer, Christina G.S., Partikian, Arthur, Patterson, Marc C., Pierson, Tyler M., Quinonez, Shane C., Regan, Brigid M., Ross, M. Elizabeth, Guillen Sacoto, Maria J., Scaglia, Fernando, Scheffer, Ingrid E., Segal, Devorah, Shah Singhal, Nilika, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D., Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A., Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F., Rosenfeld, Jill A., Edmondson, Andrew C., Grunewald, Stephanie, Freeze, Hudson H.
Publicado no Hum Mutat (2019)