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
Opportunistic genomic screening has clinical utility: An interventional cohort study Mighton, Chloe; Kodida, Rita; Shickh, Salma; Clausen, Marc; Reble, Emma; Sam, Jordan; Grewal, Sonya; Hirjikaka, Daena; Panchal, Seema; Piccinin, Carolyn; Aronson, Melyssa; Ward, Thomas; Armel, Susan Randall; Hofstedter, Renee; Graham, Tracy; Mancuso, Talia; Forster, Nicole; Capo-Chichi, Jose-Mario; Greenfeld, Elena; Noor, Abdul; Cohn, Iris; Morel, Chantal F.; Elser, Christine; Carroll, June C.; Glogowksi, Emily; Schrader, Kasmintan A.; Chan, Kelvin K. W.; Thorpe, Kevin E.; Lerner-Ellis, Jordan; Kim, Raymond H.; Bombard, Yvonne Share Save
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Blackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun Share Save
Genome Sequencing for Diagnosing Rare Diseases Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease Claus, Laura R.; Chen, Chuan; Stallworth, Jennifer; Turner, Joshua L.; Slaats, Gisela G.; Hawks, Alexandra L.; Mabillard, Holly; Senum, Sarah R.; Srikanth, Sujata; Flanagan-Steet, Heather; Louie, Raymond J.; Silver, Josh; Lerner-Ellis, Jordan; Morel, Chantal; Mighton, Chloe; Sleutels, Frank; van Slegtenhorst, Marjon; van Ham, Tjakko; Brooks, Alice S.; Dorresteijn, Eiske M.; Barakat, Tahsin Stefan; Dahan, Karin; Demoulin, Nathalie; Goffin, Eric Jean; Olinger, Eric; Larsen, Martin; Hertz, Jens Michael; Lilien, Marc R.; Obeidova, Lena; Seeman, Tomas; Stone, Hillarey K.; Kerecuk, Larissa; Gurgu, Mihai; Yengej, Fjodor A. Yousef; Ammerlaan, Carola M. E.; Rookmaaker, Maarten B.; Hanna, Christian; Rogers, R. Curtis; Duran, Karen; Peters, Edith; Sayer, John A.; van Haaften, Gijs; Harris, Peter C.; Ling, Kun; Mason, Jennifer M.; van Eerde, Albertien M.; Steet, Richard Share Save
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder Schmid, Cosima M.; Gregor, Anne; Costain, Gregory; Morel, Chantal F.; Massingham, Lauren; Schwab, Jennifer; Quelin, Chloe; Faoucher, Marie; Kaplan, Julie; Procopio, Rebecca; Saunders, Carol J.; Cohen, Ana S. A.; Lemire, Gabrielle; Sacharow, Stephanie; O'Donnell-Luria, Anne; Segal, Ranit Jaron; Shamshoni, Jessica Kianmahd; Schweitzer, Daniela; Ebrahimi-Fakhari, Darius; Monaghan, Kristin; Palculict, Timothy Blake; Napier, Melanie P.; Tao, Alice; Isidor, Bertrand; Moradkhani, Kamran; Reis, Andre; Sticht, Heinrich; Chung, Wendy K.; Zweier, Christiane Share Save
A model for the return and referral of all clinically significant secondary findings of genomic sequencing Kodida, Rita; Reble, Emma; Clausen, Marc; Shickh, Salma; Mighton, Chloe; Sam, Jordan; Forster, Nicole; Panchal, Seema; Aronson, Melyssa; Semotiuk, Kara; Graham, Tracy; Silberman, Yael; Armel, Susan Randall; McCuaig, Jeanna M.; Cohn, Iris; Morel, Chantal F.; Elser, Christine; Eisen, Andrea; Carroll, June C.; Glogowski, Emily; Schrader, Kasmintan A.; Di Gioacchino, Vanessa; Lerner-Ellis, Jordan; Kim, Raymond H.; Bombard, Yvonne; Incidental Genom Study Team Share Save
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Lentivirus-mediated gene therapy for Fabry disease Khan, Aneal; Barber, Dwayne L.; Huang, Ju; Rupar, C. Anthony; Rip, Jack W.; Auray-Blais, Christiane; Boutin, Michel; O'Hoski, Pamela; Gargulak, Kristy; McKillop, William M.; Fraser, Graeme; Wasim, Syed; LeMoine, Kaye; Jelinski, Shelly; Chaudhry, Ahsan; Prokopishyn, Nicole; Morel, Chantal F.; Couban, Stephen; Duggan, Peter R.; Fowler, Daniel H.; Keating, Armand; West, Michael L.; Foley, Ronan; Medin, Jeffrey A. Share Save
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products Sirrs, Sandra M.; Arthus, Marie-Francoise; Bichet, Daniel G.; Rockman-Greenberg, Cheryl; LeMoine, Kaye; Morel, Chantal F.; Lachmann, Robin; Lynd, Larry D.; Wasim, Syed; West, Michael L.; Hollak, Carla Share Save
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Sacoto, Maria J. Guillen; Tchasovnikarova, Iva A.; Torti, Erin; Forster, Cara; Andrew, E. Hallie; Anselm, Irina; Baranano, Kristin W.; Briere, Lauren C.; Cohen, Julie S.; Craigen, William J.; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J.; Fatemi, Ali; Fraser, Jamie L.; Gallagher, Renata C.; Guerin, Andrea; Haynes, Devon; High, Frances A.; Inglese, Cara N.; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S.; Morel, Chantal F.; Mu, Weiyi; Muller, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane Share Save
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study Shickh, Salma; Salazar, Mariana Gutierrez; Zakoor, Kathleen-Rose; Lazaro, Conxi; Gu, Jessica; Goltz, Jamie; Kleinman, Dakota; Noor, Abdul; Khalouei, Sam; Mighton, Chloe; Reble, Emma; Kodida, Rita; Bombard, Yvonne; DiTroia, Stephanie; Baxter, Samantha; Watkins, Nicholas; Care, Melanie; Adler, Arnon; Horsburgh, Sheri; Morar, Oana; Murphy, Jillian; Nevay, Dayna-Lynn; Szybowska, Marta; Aronson, Melyssa; Panchal, Seema; Godoy, Ruth; Holter, Spring; Armel, Susan Randall; Semotiuk, Kara; Elser, Christine; Kim, Raymond H.; Chitayat, David; So, Joyce; Faghfoury, Hanna; Silver, Josh; Morel, Chantal F.; Lerner-Ellis, Jordan Share Save
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Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics Yield and Clinical Significance Hoss, Sara; Habib, Manhal; Silver, Josh; Care, Melanie; Chan, Raymond H.; Hanneman, Kate; Morel, Chantal F.; Iwanochko, Robert M.; Gollob, Michael H.; Rakowski, Harry; Adler, Arnon Share Save
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Loss of base-to-apex circumferential strain gradient assessed by cardiovascular magnetic resonance in Fabry disease: relationship to T1 mapping, late gadolinium enhancement and hypertrophy Mathur, Shobhit; Dreisbach, John G.; Karur, Gauri R.; Iwanochko, Robert M.; Morel, Chantal F.; Wasim, Syed; Nguyen, Elsie T.; Wintersperger, Bernd J.; Hanneman, Kate Share Save
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Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome Hosseini, S. Mohsen; Kim, Raymond; Udupa, Sharmila; Costain, Gregory; Jobling, Rebekah; Liston, Eriskay; Jamal, Seema M.; Szybowska, Marta; Morel, Chantal F.; Bowdin, Sarah; Garcia, John; Care, Melanie; Sturm, Amy C.; Novelli, Valeria; Ackerman, Michael J.; Ware, James S.; Hershberger, Ray E.; Wilde, Arthur A. M.; Gollob, Michael H. Share Save
Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy Karur, Gauri R.; Robison, Sean; Iwanochko, Robert M.; Morel, Chantal F.; Crean, Andrew M.; Thavendiranathan, Paaladinesh; Nguyen, Elsie T.; Mathur, Shobhit; Wasim, Syed; Hanneman, Kate Share Save
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