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Re-evaluating acceptable risk of death from gene therapy: A threshold study among individuals with Duchenne muscular dystrophy and their caregivers in the US and UK Peay, Holly; Fischer, Ryan; McNiff, Megan; Heslop, Emma; Pierce, Anna; Denger, Brian; Camino, Eric; Johnson, Alexandra; Cope, Heidi; Hill, Christine; Beaverson, Katherine L.; Ganot, Annie; Phillips, Dawn; Woollacott, Ione O. C.; Bateman-House, Alison; Flanigan, Kevin M.; Goemans, Nathalie; Servais, Laurent; Guglieri, Michela; Mansfield, Carol Share Save
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
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation Cope, Heidi L.; Milko, Laura, V; Jalazo, Elizabeth R.; Crissman, Blythe G.; Foreman, Ann Katherine M.; Powell, Bradford C.; DeJong, Neal A.; Hunter, Jessica Ezzell; Boyea, Beth Lincoln; Forsythe, Ana N.; Wheeler, Anne C.; Zimmerman, Rebekah S.; Suchy, Sharon F.; Begtrup, Amber; Langley, Katherine G.; Monaghan, Kristin G.; Kraczkowski, Christina; Hruska, Kathleen S.; Kruszka, Paul; Kucera, Katerina S.; Berg, Jonathan S.; Powell, Cynthia M.; Peay, Holly L. Share Save
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S. Share Save
Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy Cope, Heidi; Fischer, Ryan; Heslop, Emma; McNiff, Megan; Johnson, Alexandra; Camino, Eric; Denger, Brian; Armstrong, Niki; Thakrar, Sejal; Bateman-House, Alison; Beaverson, Katherine L.; Woollacott, Ione O. C.; Phillips, Dawn; Fernandez, Vivian; Ganot, Annie; Donisa-Dreghici, Roxana; Mansfield, Carol; Peay, Holly Share Save
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina Kucera, Katerina S.; Boyea, Beth Lincoln; Migliore, Brooke; Potter, Sarah Nelson; Robles, Veronica R.; Kutsa, Oksana; Cope, Heidi; Okoniewski, Katherine C.; Wheeler, Anne; Rehder, Catherine W.; Smith, Edward C.; Peay, Holly L. Share Save
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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy Shashi, Vandana; Schoch, Kelly; Ganetzky, Rebecca; Kranz, Peter G.; Sondheimer, Neal; Markert, M. Louise; Cope, Heidi; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Tyndall, Amanda V.; Esser, Michael J.; Woodward, Kristine E.; Au, Billie Ping-Yee; Parboosingh, Jillian S.; Lamont, Ryan E.; Bernier, Francois P.; Wright, Nicola A. M.; Benseler, Susa M.; Parsons, Simon J.; El-Dairi, Mays; Smith, Edward C.; Valdez, Purnima; Tennison, Michael; Innes, A. Micheil; Davias, Erica E. Share Save
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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network Spillmann, Rebecca C.; Tan, Queenie K. -G.; Reuter, Chloe; Schoch, Kelly; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T.; Bernstein, Jonathan A.; Shashi, Vandana Share Save
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D.; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K. G.; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C.; Sadjadi, Reza; Elpeleg, Orly; Lee, Chia-Hsueh; Bellen, Hugo J.; Edvardson, Simon; Eichler, Florian; Dunn, Teresa M. Share Save
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome Bainbridge, Matthew N.; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Genevieve; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C. E.; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L.; Rutledge, S. Lane; Scalise, Roberta; Schliesske, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Qebibo, Leila; Wieczorek, Dagmar; Cravatt, Benjamin; Haricharan, Svasti; Torkamani, Ali; Friedman, Jennifer Share Save
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity Kurolap, Alina; Kreuder, Florian; Gonzaga-Jauregui, Claudia; Duvdevani, Morasha Plesser; Harel, Tamar; Tammer, Luna; Xin, Baozhong; Bakhtiari, Somayeh; Rice, James; van Eyk, Clare L.; Gecz, Jozef; Mah, Jean K.; Atkinson, Derek; Cope, Heidi; Sullivan, Jennifer A.; Douek, Alon M.; Colquhoun, Daniel; Henry, Jason; Wlodkowic, Donald; Parman, Yesim; Candayan, Ayse; Kocasoy-Orhan, Elif; Ilivitzki, Anat; Soudry, Shiri; Leibu, Rina; Glaser, Fabian; Sency, Valerie; Ast, Gil; Shashi, Vandana; Fahey, Michael C.; Battalog, Esra; Jordanova, Albena; Meiner, Vardiella; Innes, A. Micheil; Wang, Heng; Elpeleg, Orly; Kruer, Michael C.; Kaslin, Jan; Feldman, Hagit Baris Share Save
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