Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Science Advances
Bryant, Laura L; Li, Dong D; Cox, Samuel G SG; Marchione, Dylan D; Joiner, Evan F EF; Wilson, Khadija K; Janssen, Kevin K; Lee, Pearl P; March, Michael E ME; Nair, Divya D; Sherr, Elliott E; Fregeau, Brieana B; Wierenga, Klaas J KJ; Wadley, Alexandrea A; Mancini, Grazia M S GMS; Powell-Hamilton, Nina N; van de Kamp, Jiddeke J; Grebe, Theresa T; Dean, John J; Ross, Alison A; Crawford, Heather P HP; Powis, Zoe Z; Cho, Megan T MT; Willing, Marcia C MC; Manwaring, Linda L; Schot, Rachel R; Nava, Caroline C; Afenjar, Alexandra A; Lessel, Davor D; Wagner, Matias M; Klopstock, Thomas T; Winkelmann, Juliane J; Catarino, Claudia B CB; Retterer, Kyle K; Schuette, Jane L JL; Innis, Jeffrey W JW; Pizzino, Amy A; Lüttgen, Sabine S; Denecke, Jonas J; Strom, Tim M TM; Monaghan, Kristin G KG; , ; Yuan, Zuo-Fei ZF; Dubbs, Holly H; Bend, Renee R; Lee, Jennifer A JA; Lyons, Michael J MJ; Hoefele, Julia J; Günthner, Roman R; Reutter, Heiko H; Keren, Boris B; Radtke, Kelly K; Sherbini, Omar O; Mrokse, Cameron C; Helbig, Katherine L KL; Odent, Sylvie S; Cogne, Benjamin B; Mercier, Sandra S; Bezieau, Stephane S; Besnard, Thomas T; Kury, Sebastien S; Redon, Richard R; Reinson, Karit K; Wojcik, Monica H MH; Õunap, Katrin K; Ilves, Pilvi P; Innes, A Micheil AM; Kernohan, Kristin D KD; , ; Costain, Gregory G; Meyn, M Stephen MS; Chitayat, David D; Zackai, Elaine E; Lehman, Anna A; Kitson, Hilary H; , ; Martin, Martin G MG; Martinez-Agosto, Julian A JA; , ; Nelson, Stan F SF; Palmer, Christina G S CGS; Papp, Jeanette C JC; Parker, Neil H NH; Sinsheimer, Janet S JS; Vilain, Eric E; Wan, Jijun J; Yoon, Amanda J AJ; Zheng, Allison A; Brimble, Elise E; Ferrero, Giovanni Battista GB; Radio, Francesca Clementina FC; Carli, Diana D; Barresi, Sabina S; Brusco, Alfredo A; Tartaglia, Marco M; Thomas, Jennifer Muncy JM; Umana, Luis L; Weiss, Marjan M MM; Gotway, Garrett G; Stuurman, K E KE; Thompson, Michelle L ML; McWalter, Kirsty K; Stumpel, Constance T R M CTRM; Stevens, Servi J C SJC; Stegmann, Alexander P A APA; Tveten, Kristian K; Vøllo, Arve A; Prescott, Trine T; Fagerberg, Christina C; Laulund, Lone Walentin LW; Larsen, Martin J MJ; Byler, Melissa M; Lebel, Robert Roger RR; Hurst, Anna C AC; Dean, Joy J; Schrier Vergano, Samantha A SA; Norman, Jennifer J; Mercimek-Andrews, Saadet S; Neira, Juanita J; Van Allen, Margot I MI; Longo, Nicola N; Sellars, Elizabeth E; Louie, Raymond J RJ; Cathey, Sara S SS; Brokamp, Elly E; Heron, Delphine D; Snyder, Molly M; Vanderver, Adeline A; Simon, Celeste C; de la Cruz, Xavier X; Padilla, Natália N; Crump, J Gage JG; Chung, Wendy W; Garcia, Benjamin B; Hakonarson, Hakon H HH; Bhoj, Elizabeth J EJ
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Science Advances
Bryant, Laura L; Li, Dong D; Cox, Samuel G SG; Marchione, Dylan D; Joiner, Evan F EF; Wilson, Khadija K; Janssen, Kevin K; Lee, Pearl P; March, Michael E ME; Nair, Divya D; Sherr, Elliott E; Fregeau, Brieana B; Wierenga, Klaas J KJ; Wadley, Alexandrea A; Mancini, Grazia M S GMS; Powell-Hamilton, Nina N; van de Kamp, Jiddeke J; Grebe, Theresa T; Dean, John J; Ross, Alison A; Crawford, Heather P HP; Powis, Zoe Z; Cho, Megan T MT; Willing, Marcia C MC; Manwaring, Linda L; Schot, Rachel R; Nava, Caroline C; Afenjar, Alexandra A; Lessel, Davor D; Wagner, Matias M; Klopstock, Thomas T; Winkelmann, Juliane J; Catarino, Claudia B CB; Retterer, Kyle K; Schuette, Jane L JL; Innis, Jeffrey W JW; Pizzino, Amy A; Lüttgen, Sabine S; Denecke, Jonas J; Strom, Tim M TM; Monaghan, Kristin G KG; , ; Yuan, Zuo-Fei ZF; Dubbs, Holly H; Bend, Renee R; Lee, Jennifer A JA; Lyons, Michael J MJ; Hoefele, Julia J; Günthner, Roman R; Reutter, Heiko H; Keren, Boris B; Radtke, Kelly K; Sherbini, Omar O; Mrokse, Cameron C; Helbig, Katherine L KL; Odent, Sylvie S; Cogne, Benjamin B; Mercier, Sandra S; Bezieau, Stephane S; Besnard, Thomas T; Kury, Sebastien S; Redon, Richard R; Reinson, Karit K; Wojcik, Monica H MH; Õunap, Katrin K; Ilves, Pilvi P; Innes, A Micheil AM; Kernohan, Kristin D KD; , ; Costain, Gregory G; Meyn, M Stephen MS; Chitayat, David D; Zackai, Elaine E; Lehman, Anna A; Kitson, Hilary H; , ; Martin, Martin G MG; Martinez-Agosto, Julian A JA; , ; Nelson, Stan F SF; Palmer, Christina G S CGS; Papp, Jeanette C JC; Parker, Neil H NH; Sinsheimer, Janet S JS; Vilain, Eric E; Wan, Jijun J; Yoon, Amanda J AJ; Zheng, Allison A; Brimble, Elise E; Ferrero, Giovanni Battista GB; Radio, Francesca Clementina FC; Carli, Diana D; Barresi, Sabina S; Brusco, Alfredo A; Tartaglia, Marco M; Thomas, Jennifer Muncy JM; Umana, Luis L; Weiss, Marjan M MM; Gotway, Garrett G; Stuurman, K E KE; Thompson, Michelle L ML; McWalter, Kirsty K; Stumpel, Constance T R M CTRM; Stevens, Servi J C SJC; Stegmann, Alexander P A APA; Tveten, Kristian K; Vøllo, Arve A; Prescott, Trine T; Fagerberg, Christina C; Laulund, Lone Walentin LW; Larsen, Martin J MJ; Byler, Melissa M; Lebel, Robert Roger RR; Hurst, Anna C AC; Dean, Joy J; Schrier Vergano, Samantha A SA; Norman, Jennifer J; Mercimek-Andrews, Saadet S; Neira, Juanita J; Van Allen, Margot I MI; Longo, Nicola N; Sellars, Elizabeth E; Louie, Raymond J RJ; Cathey, Sara S SS; Brokamp, Elly E; Heron, Delphine D; Snyder, Molly M; Vanderver, Adeline A; Simon, Celeste C; de la Cruz, Xavier X; Padilla, Natália N; Crump, J Gage JG; Chung, Wendy W; Garcia, Benjamin B; Hakonarson, Hakon H HH; Bhoj, Elizabeth J EJ