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Death associated with brain herniation in classical MSUD patients from underrepresented populations Leon, Eyby; Shur, Natasha; Chapman, Kimberly; Grant, Christina Lee; Fraser, Jamie; Regier, Debra; Vergano, Samantha; MacLeod, Erin; Starin, Danielle; Harmon, Jennifer; Laso, Maria Cristina Share Save
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan Share Save
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Addressing underrepresentation in genomics research through community engagement Lemke, Amy A.; Esplin, Edward D.; Goldenberg, Aaron J.; Gonzaga-Jauregui, Claudia; Hanchard, Neil A.; Harris-Wai, Julie; Ideozu, Justin E.; Isasi, Rosario; Landstrom, Andrew P.; Prince, Anya E. R.; Turbitt, Erin; Sabatello, Maya; Vergano, Samantha A. Schrier; Taylor, Matthew R. G.; Yu, Joon-Ho; Brothers, Kyle B.; Garrison, Nanibaa' A. Share Save
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim Share Save
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra; Wortmann, Saskia B. Share Save
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors Alves, C. A. P. F.; Sherbini, O.; D'Arco, F.; Steel, D.; Kurian, M. A.; Radio, F. C.; Ferrero, G. B.; Carli, D.; Tartaglia, M.; Balci, T. B.; Powell-Hamilton, N. N.; Vergano, S. A. Schrier; Reutter, H.; Hoefele, J.; Gunthner, R.; Roeder, E. R.; Littlejohn, R. O.; Lessel, D.; Luttgen, S.; Kentros, C.; Anyane-Yeboa, K.; Catarino, C. B.; Mercimek-Andrews, S.; Denecke, J.; Lyons, M. J.; Klopstock, T.; Bhoj, E. J.; Bryant, L.; Vanderver, A. Share Save
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Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N.; Ritter, Alyssa L.; Leonard, Jacqueline M. M.; Savatt, Juliann M.; Douglass, Kristen; Myers, Scott M.; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C. E.; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J.; de Lange, Iris M.; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frederic; Baker, Janice; Fabie, Noelle; Weaver, K.; Shillington, Amelle; Hopkin, Robert J.; Barge-Schaapveld, Daniela Q. C. M.; Al Ruivenkamp, Claudia; Bokenkamp, Regina; Vergano, Samantha; Moro, Maria Noelia Seco; de Bustamante, Aranzazu Diaz; Misra, Vinod K.; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M.; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C.; Lefebvre, Veronique Share Save
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Muir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C. Share Save
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females Li, Dong; Strong, Alanna; Shen, Kaitlyn M.; Cassiman, David; Van Dyck, Maria; Linhares, Natalia Duarte; Valadares, Eugenia Ribeiro; Wang, Tiancheng; Pena, Sergio D. J.; Jaeken, Jaak; Vergano, Samantha; Zackai, Elaine; Hing, Anne; Chow, Penny; Ganguly, Arupa; Scholz, Tasja; Bierhals, Tatjana; Philipp, Deindl; Hakonarson, Hakon; Bhoj, Elizabeth Share Save
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Hueffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A.; Rawson, Kristyn L.; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Mau-Them, Frederic Tran; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D. Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Nelson, Stanley F.; Zacher, Pia; Abou Jamra, Rami; Kloeckner, Chiara; McGaughran, Julie; Kohlhase, Juergen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J. Guillen; Henderson, Lindsay B.; Palculict, Timothy Blake; Mullegama, Sureni, V; Elloumi, Houda Zghal; Reich, Adi; Vergano, Samantha A. Schrier; Wahl, Erica; Reis, Andre; Zweier, Christiane Share Save
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M. Share Save
Mowat-Wilson syndrome: growth charts Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P.; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, Jill; Cocco, Isabella; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Garcia, Juliette Dupont; Gastaldi, Roberto; Giordano, Lucio; Guala, Andrea; Hoei-Hansen, Christina; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Moller, Rikke S.; Muschke, Petra; Otelli, Valeria; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Reina, Purificacion Marin; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Simonte, Graziella; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maria Elisabeth; Iughetti, Lorenzo; Bernasconi, Sergio; Rossi, Paolo Giorgi; Garavelli, Livia Share Save
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2 Blackburn, Patrick R.; Schultz, Matthew J.; Lahner, Carrie A.; Li, Dong; Bhoj, Elizabeth; Fisher, Laura J.; Renaud, Deborah L.; Kenney, Amy; Ibrahim, Niema; Hashem, Mais; Seidahmed, Mohammed Zain; Hasadsri, Linda; Vergano, Samantha A. Schrier; Alkuraya, Fowzan S.; Lanpher, Brendan C. Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (vol 19, pg 238, 2020) Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; Mckee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
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