Zackai, Elaine H.
https://orcid.org/0000-0002-8002-893X
Mayo Clinic
Children's Hospital of Philadelphia
Citations 3
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.
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, Magdalena , Callens, Tom, Chen, Yunjia , Gomes, Alicia , Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim, Armstrong, Linlea , Bosanko, Katherine A. , Babovic‐Vuksanovic, Dusica , Baker, Laura, Basel, Donald , Bengala, Mario, Chambers, Chelsea , Clarkson, L. Kate, Clementi, Maurizio , Cortés, Fanny, Cunningham, Mitch , D’Agostino, Daniela , Delatycki, Martin B. , Digilio, M. Cristina , Dosa, Laura, Esposito, Silvia , Freckmann, Mary‐Louise , Fauth, Christine , Giugliano, Teresa , Giustini, Sandra , Goetsch, Allison L. , Goldberg, Yael , Greenwood, Robert , Griffis, Cristin, Gripp, Karen W. , Gupta, Punita , Haan, Eric , Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J. , Hudgins, Louanne , Janssens, Sandra , Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina , Korf, Bruce R. , Lewis, Andrea M. , Liebelt, Jan, Lichty, Angie, Listernick, Robert , Lyons, Michael J. , Maystadt, Isabelle , Ojeda, Mayra Martinez, McDougall, Carey, McGregor, Lesley , Melis, Daniela , Mendelsohn, Nancy J., Nowaczyk, Małgorzata J.M. , Ortenberg, June, Panzer, Karin, Pappas, John , Pierpont, Mary Ella , Pinna, Valentina, Pivnick, Enikö K., Pond, Dinel , Powell, Cynthia M. , Rogers, Caleb , Ruhrman‐Shahar, Noa , Rutledge, S. Lane , Saletti, Veronica , Sandaradura, Sarah A. , Schatz, Ulrich A. , Schreiber, Allison, Sellars, Elizabeth A. , Siqveland, Elizabeth, Slopis, John M. , Smith, Rosemarie, Spalice, Alberto , Stockton, David W., Streff, Haley , Theos, Amy , Tran, Grace , Trapane, Pamela , Trevisson, Eva , Ullrich, Nicole J. , Ende, Jenneke van den , Wallace, Stephanie E , Weaver, David D. , Yohay, Kaleb , Zackai, Elaine H. , Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen , Eoli, Marica , Wimmer, Katharina , Luca, Alessandro De , Messiaen, Ludwine , Trevisson, Eva , Wangler, Michael F , Claes, Kathleen B M , Wimmer, Katharina , De Luca, Alessandro , Messiaen, Ludwine M , Gupta, Punita , Bennett, James T , Fox, Stephanie, Hernández-Chico, Concepción, Piluso, Giulio , Santoro, Claudia , Scott, Daryl A , Sheffer, Ruth N. , Tomlinson, Gail Elizabeth , Vergano, Samantha A. Schrier , Martín, Yolanda , Legius, Eric
Human Mutation | October 9, 2019 | Volume: 41 | Issue: 1 | Pages: 299-315
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
Rojnueangnit, Kitiwan , Xie, Jing , Gomes, Alicia , Sharp, Angela, Callens, Tom, Chen, Yunjia , Liu, Ying , Abbott, Mary‐Alice , Atkin, Joan, Babovic‐Vuksanovic, Dusica , Barnett, Christopher , Crenshaw, Melissa , Bartholomew, Dennis W., Basel, Lina, Bellus, Gary A. , Ben‐Shachar, Shay , Bialer, Martin G., Bick, David , Blumberg, Bruce , Cortés, Fanny, David, Karen L. , Destrèe, Anne , Rodríguez, Anna Duat , Earl, Dawn , Eswara, Marthanda, Ezquieta, Begoña, Frayling, Ian M. , Frydman, Moshe , Gardner, Kathy, Gripp, Karen W. , Hernández‐Chico, Concepción, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra , Keena, Beth, Llano‐Rivas, Isabel , Leppig, Kathy, McDonald, Marie , Misra, Vinod K. , Mulbury, Jennifer, Narayanan, Vinodh , Orenstein, Naama, Galvin‐Parton, Patricia , Pedro, Hélio , Pivnick, Enikö K., Powell, Cynthia M. , Randolph, Linda M., Raskin, Salmo , Rubin, Karol, Seashore, Margretta R., Schaaf, Christian P. , Schultz, Meredith, Schorry, Elizabeth K. , Schnur, Rhonda E. , Siqveland, Elizabeth, Tkachuk, Amanda , Tonsgard, James H. , Upadhyaya, Meena , Verma, Ishwar C. , Wallace, Stephanie E , Williams, Charles A. , Zackai, Elaine H. , Zonana, Jonathan, Lázaro, Conxi , Claes, Kathleen , Korf, Bruce R. , Messiaen, Ludwine , Babovic-Vuksanovic, Dusica, Cochran, J. Nicholas , Escobar, Luis Fernando , Hernández-Chico, Concepción, Rosell, Jordi , Scheuerle, Angela E. , Martín, Yolanda , Legius, Eric , Claes, Kathleen B M , Lazaro, Conxi
Human Mutation | July 14, 2015 | Volume: 36 | Issue: 11 | Pages: 1052-1063