Not logged in DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save
Molecular characterization of the calcium release channel deficiency syndrome Tester, David J.; Kim, C. S. John; Hamrick, Samantha K.; Ye, Dan; O'Hare, Bailey J.; Bombei, Hannah M.; Fitzgerald, Kristi K.; Haglund-Turnquist, Carla M.; Atkins, Dianne L.; Nunez, Luis A. Ochoa; Law, Ian; Temple, Joel; Ackerman, Michael J. Share Save
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community Tester, David J.; Bombei, Hannah M.; Fitzgerald, Kristi K.; Giudicessi, John R.; Pitel, Beth A.; Thorland, Erik C.; Russell, Barbara G.; Hamrick, Samantha K.; Kim, C. S. John; Haglund-Turnquist, Carla M.; Johnsrude, Christopher L.; Atkins, Dianne L.; Ochoa Nunez, Luis A.; Law, Ian; Temple, Joel; Ackerman, Michael J. Share Save
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Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11 Marshall, Christian R.; Young, Edwin J.; Pani, Ariel M.; Freckmann, Mary-Louise; Lacassie, Yves; Howald, Cedric; Fitzgerald, Kristi K.; Peippo, Maarit; Morris, Colleen A.; Shane, Kate; Priolo, Manuela; Morimoto, Masafumi; Kondo, Ikuko; Manguoglu, Esra; Berker-Karauzum, Sibel; Edery, Patrick; Hobart, Holly H.; Mervis, Carolyn B.; Zuffardi, Orsetta; Reymond, Alexandre; Kaplan, Paige; Tassabehji, May; Gregg, Ronald G.; Scherer, Stephen W.; Osborne, Lucy R. Share Save
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