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Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions Nelson, Tanner J.; McGinn, Daniel E.; Crowley, T. Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M. Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S.; Zackai, Elaine H.; Zhang, Zhengdong D.; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S.; Morrow, Bernice E.; McDonald-McGinn, Donna M. Share Save
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Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome Souders, Margaret C.; McDonald-McGinn, Donna M.; Ruparel, Kosha; Moore, Tyler M.; Tang, Sunny X.; Calkins, Monica E.; Zackai, Elaine H.; Gur, Ruben C.; Emanuel, Beverly S.; Gur, Raquel E. Share Save
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome Iwata-Otsubo, Aiko; Rippert, Alyssa L.; Balciuniene, Jorune; Fiordaliso, Sarah K.; Chen, Robert; Markose, Preetha; Skraban, Cara M.; Gray, Christopher; Zackai, Elaine H.; Dubbs, Holly A.; Deardorff, Matthew A.; Conlin, Laura K.; Izumi, Kosuke Share Save
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome Strong, Alanna; March, Michael E.; Cardinale, Christopher J.; Liu, Yichuan; Battig, Mark R.; Finoti, Livia Sertori; Matsuoka, Leticia S.; Watson, Deborah; Sridhar, Sindura; Jarrett, James F.; Cannon, India; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine H.; Rand, Elizabeth B.; Wenger, Tara; Lerman, Bruce B.; Shikany, Amy; Weaver, K. Nicole; Hakonarson, Hakon Share Save
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/(3-catenin signaling Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anais; Joset, Pascal; Bhoj, Elizabeth J.; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Bralo, Maria Palomares; Orozco, Emi Rikeros; Hao, Qin; Kristiansen, Britta Schlott; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H. C.; Sticht, Heinrich; Rauch, Anita Share Save
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J. M.; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A.; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sebastien; Jizi, Khadije; van Ravenswaaij-Arts, Conny M. A.; Kroes, Hester Y.; Stumpel, Constance T. R. M.; Ockeloen, Charlotte W.; Diets, Illja J.; Nizon, Mathilde; Vincent, Marie; Cogne, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H.; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E.; Vera, Moin; Shen, Joseph J.; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N.; Giltay, Jacques C.; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; de Vries, Bert B. A.; Motter, Constance S.; Mendelsohn, Bryce A.; Coffino, Samantha; Gerkes, Erica H.; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J.; Rutten, Julie W.; Caluseriu, Oana; Vernon, Hilary J.; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M. E.; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Leuchter, Russia Ha-Vinh; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Alvarez, Mariana Ines Aracena; Kennis, Milou G. P.; Bouman, Arianne; Roifman, Maian; Rodriguez, Maria Inmaculada Amoros; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth Share Save
Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review Wild, K. Taylor; Conlin, Laura; Blair, Justin; Manfredi, Michael; Hamilton, Thomas E.; Muir, Amanda; Zackai, Elaine H.; Nace, Gary; Partridge, Emily A.; Devine, Matthew; Reynolds, Tom; Rintoul, Natalie E.; Hedrick, Holly L.; Spinner, Nancy; Krantz, Ian D. Share Save
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders Roalf, David R.; McDonald-McGinn, Donna M.; Jee, Joelle; Krall, Mckenna; Crowley, T. Blaine; Moberg, Paul J.; Kohler, Christian; Calkins, Monica E.; Crow, Andrew J. D.; Fleischer, Nicole; Gallagher, R. Sean; Gonzenbach, Virgilio; Clark, Kelly; Gur, Ruben C.; Mcclellan, Emily; Mcginn, Daniel E.; Mordy, Arianna; Ruparel, Kosha; Turetsky, Bruce I.; Shinohara, Russell T.; White, Lauren; Zackai, Elaine; Gur, Raquel E. Share Save
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age Freud, Lindsay R.; Galloway, Stephanie; Crowley, Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kazmierczak, Anna; Vermeesch, Joris R.; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M.; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl -Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Buil, Ana Achon; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E.; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; -Haug, Louise Wilkins; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; Mcglynn, Julie; Grati, Francesca Romana; Emanuel, Beverly S.; Gaiser, Kimberly; Gaynor, William; Goldmuntz, Elizabeth; Mcginn, Daniel E.; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H.; Yan, Qi; Bassett, Anne S.; Wapner, Ronald; McDonald-McGinn, Donna M. Share Save
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome White, L. K.; Hillman, N.; Ruparel, K.; Moore, T. M.; Gallagher, R. S.; Mcclellan, E. J.; Roalf, D. R.; Scott, J. C.; Calkins, M. E.; Mcginn, D. E.; Giunta, V.; Tran, O.; Crowley, T. B.; Zackai, E. H.; Emanuel, B. S.; McDonald-McGinn, D. M.; Gur, R. E.; Gur, R. C. Share Save
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M. Share Save
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays Ganapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth Share Save
Anesthesia and Sedation Exposure and Neurodevelopmental Outcomes in Infants Undergoing Congenital Cardiac Surgery: A Retrospective Cohort Study Simpao, Allan F.; Randazzo, Isabel R.; Chittams, Jesse L.; Burnham, Nancy; Gerdes, Marsha; Bernbaum, Judith C.; Walker, Tia; Imsdahl, Solveig; Dewitt, Aaron G.; Zackai, Elaine H.; Gaynor, J. William; Loepke, Andreas W. Share Save
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder Kuroda, Yukiko; Iwata-Otsubo, Aiko; Dias, Kerith-Rae; Temple, Suzanna E. L.; Nagao, Koji; De Hayr, Lachlan; Zhu, Ying; Isobe, Shin-Ya; Nishibuchi, Gohei; Fiordaliso, Sarah K.; Fujita, Yuki; Rippert, Alyssa L.; Baker, Samuel W.; Leung, Marco L.; Koboldt, Daniel C.; Harman, Adele; Keena, Beth A.; Kazama, Izumi; Subramanian, Gopinath Musuwadi; Manickam, Kandamurugu; Schmalz, Betsy; Latsko, Maeson; Zackai, Elaine H.; Edwards, Matt; Evans, Carey-Anne; Dulik, Matthew C.; Buckley, Michael F.; Yamashita, Toshihide; O'Brien, W. Timothy; Harvey, Robert J.; Obuse, Chikashi; Roscioli, Tony; Izumi, Kosuke Share Save
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome Gur, Raquel E.; McDonald-McGinn, Donna M.; Moore, Tyler M.; Gallagher, R. Sean; McClellan, Emily; White, Lauren; Ruparel, Kosha; Hillman, Noah; Crowley, T. Blaine; McGinn, Daniel E.; Zackai, Elaine; Emanuel, Beverly S.; Calkins, Monica E.; Roalf, David R.; Gur, Ruben C. Share Save
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza Share Save
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