Citations 2
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant, Laura , Li, Dong , Cox, Samuel G., Wilson, Khadija , Janssen, Kevin A. , March, Michael , Sherr, Elliott H. , Fregeau, Brieana, Wierenga, Klaas J. , Wadley, Alexandrea, Mancini, Grazia M.S., Powell‐Hamilton, Nina , Kamp, Jiddeke van de, Grebe, Theresa A., Ross, Alison , Crawford, Heather P., Powis, Zöe , Cho, Megan T. , Willing, Marcia, Schot, Rachel , Afenjar, Alexandra , Lessel, Davor , Wagner, Matias , Klopstock, Thomas , Winkelmann, Juliane , Retterer, Kyle , Schuette, Jane L., Innis, Jeffrey W. , Pizzino, Amy , Lüttgen, Sabine, Denecke, Jonas , Strom, Tim M., Monaghan, Kristin G. , Study, DDD, Yuan, Zuo‐Fei , Dubbs, Holly , Bend, Renee, Lee, Jennifer A. , Lyons, Michael J. , Hoefele, Julia , Günthner, Roman , Keren, Boris , Radtke, Kelly, Sherbini, Omar , Mrokse, Cameron, Helbig, Katherine L. , Odent, Sylvie , Mercier, Sandra , Küry, Sébastien , Redon, Richard , Reinson, Karit , Wojcik, Monica H. , Õunap, Katrin , Ilves, Pilvi , Innes, A. Micheil , Kernohan, Kristin D. , Costain, Gregory , Zackai, Elaine H. , Kitson, Hilary, Study, CAUSES, Martin, Martin G., Martínez-Agosto, Julián A. , Network, Undiagnosed Diseases, Nelson, Stan F., Palmer, Christina G.S. , Papp, Jeanette C. , Parker, Neil H., Wan, Jijun , Yoon, Amanda J., Zheng, Allison, Carli, Diana , Brusco, Alfredo , Tartaglia, Marco , Thomas, Jennifer Muncy, Weiss, Marjan M. , Gotway, Garrett , Stuurman, Kyra E. , Thompson, Michelle L. , Stumpel, Constance T. R. M., Stevens, Servi J.C. , Stegmann, Alexander P.A. , Tveten, Kristian , Vøllo, Arve, Prescott, Trine , Fagerberg, Christina , Laulund, Lone Walentin , Larsen, Martin J. , Byler, Melissa, Lebel, Robert Roger, Dean, Joy, Mercimek‐Andrews, Saadet , Neira, Juanita, Allen, Margot I. Van, Sellars, Elizabeth A. , Louie, Raymond J. , Cathey, Sara , Brokamp, Elly , Héron, Delphine, Snyder, Molly, Simon, Celeste, Cruz, Xavier de la , Padilla, Natàlia , García, Benjamin A. , Håkonarson, Håkon , Bhoj, Elizabeth , Nelson, Stanley F. , Sherr, Elliott , Dean, John , Lessel, Davor , Klopstock, Thomas , Kury, Sebastien , Brusco, Alfredo , McWalter, Kirsty , Stevens, Servi J C , Crump, J Gage , Hakonarson, Hakon , Bhoj, Elizabeth J , Tartaglia, Marco , Li, Dong , Wagner, Matias , Redon, Richard , Õunap, Katrin , de la Cruz, Xavier , Padilla, Natália , March, Michael , Hoefele, Julia , Marchione, Dylan M. , Joiner, Evan F. , Lee, Pearl , Nair, Divya, Kamp, Jiddeke M. van de , Manwaring, Linda P. , Nava, Caroline , Catarino, Claudia B. , Monaghan, Kristin G. , Study, DDD, Reutter, Heiko , Radtke, Kelly , Cogné, Benjamin , Bezieau, Stéphane , Besnard, Thomas , Meyn, M Stephen , Chitayat, David A. , Lehman, Anna , Study, CAUSES, Network, Undiagnosed Diseases, Sinsheimer, Janet S. , Vilain, Eric J. N. , Brimble, Elise , Ferrero, Giovanni Battista , Radio, Francesca Clementina , Barresi, Sabina , Umaña, Luis Alfredo , Hurst, Anna , Vergano, Samantha A. Schrier , Norman, Jennifer, Longo, Nicola , Vanderver, Adeline , Chung, Wendy K.
Science Advances | December 3, 2020 | Volume: 6 | Issue: 49 | Pages: No page available
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
Expanding the Molecular and Clinical Phenotype of SSR4-CDG
Raymond, Kimiyo , Kircher, Martin , Buckingham, Kati J. , Wood, Tim , Nickerson, Deborah A. , Bamshad, Michael J. , Wong, Jonathan T.S., Monteiro, Fabíola Paoli , Graham, Brett H. , Jackson, Sheryl, Sparkes, Rebecca, Cathey, Sara , Gibson, James B., Freeze, Hudson H. , Blue, Elizabeth , Ng, Bobby G. , Shendure, Jay , Wong, Jonathan T S, Scheuerle, Angela E. , Kok, Fernando , Freeze, Hudson H
Human Mutation | August 12, 2015 | Volume: 36 | Issue: 11 | Pages: 1048-1051