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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants Mccarty, Riley M.; Saade, Dimah; Munot, Pinki; Laverty, Chamindra G.; Pinz, Hailey; Zou, Yaqun; Mcanally, Meghan; Yun, Pomi; Tian, Cuixia; Hu, Ying; Feng, Lucy; Phadke, Rahul; Ceulemans, Sophia; Magoulas, Pilar; Skalsky, Andrew J.; Friedman, Jennifer R.; Braddock, Stephen R.; Neuhaus, Sarah B.; Malicki, Denise M.; Bainbridge, Matthew N.; Nahas, Shareef; Dimmock, David P.; Kingsmore, Stephen F.; Lotze, Timothy E.; Foley, A. Reghan; Muntoni, Francesco; Straub, Volker; Donkervoort, Sandra; Bonnemann, Carsten G. Share Save
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza Share Save
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M. Share Save
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S. Share Save
ARF1-related disorder: phenotypic and molecular spectrum Agathe, Jean-Madeleine de Sainte; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Celine; Alkuraya, Fowzan S.; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L.; Bryant, Emily M.; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M.; Friedman, Jennifer R.; Iascone, Maria; Cereda, Anna; Miao, Terence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N.; Owens, Joshua W.; Husami, Ammar; Chaudhari, Bimal P.; Stone, Brandon S.; Burns, Katie; Li, Rachel; de Lange, Iris M.; Biehler, Margaux; Ginglinger, Emmanuelle; Gerard, Benedicte; Stottmann, Rolf W.; Trimouille, Aurelien Share Save
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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna Share Save
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. Share Save
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate Sanford Kobayashi, Erica; Batalov, Serge; Wenger, Aaron M.; Lambert, Christine; Dhillon, Harsharan; Hall, Richard J.; Baybayan, Primo; Ding, Yan; Rego, Seema; Wigby, Kristen; Friedman, Jennifer; Hobbs, Charlotte; Bainbridge, Matthew N. Share Save
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony Share Save
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study Meneret, Aurelie; Mohammad, Shekeeb S.; Cif, Laura; Doummar, Diane; DeGusmao, Claudio; Anheim, Mathieu; Barth, Magalie; Damier, Philippe; Demonceau, Nathalie; Friedman, Jennifer; Gallea, Cecile; Gras, Domitille; Gurgel-Giannetti, Juliana; Innes, Emily A.; Necpal, Jan; Riant, Florence; Sagnes, Sandrine; Sarret, Catherine; Seliverstov, Yury; Paramanandam, Vijayashankar; Shetty, Kuldeep; Tranchant, Christine; Doulazmi, Mohamed; Vidailhet, Marie; Pringsheim, Tamara; Roze, Emmanuel Share Save
DNA methylation episignature in Gabriele-de Vries syndrome Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley; Barat-Houari, Mouna; Butler, Kameryn M.; Coubes, Christine; Lee, Jennifer A.; Le Guyader, Gwenael; Louie, Raymond J.; Patterson, Wesley G.; Tedder, Matthew L.; Bak, Mads; Hammer, Trine Bjorg; Craigen, William; Demurger, Florence; Dubourg, Christele; Fradin, Melanie; Franciskovich, Rachel; Frengen, Eirik; Friedman, Jennifer; Palares, Nathalie Ruiz; Iascone, Maria; Misceo, Doriana; Monin, Pauline; Odent, Sylvie; Philippe, Christophe; Rouxel, Flavien; Saletti, Veronica; Stromme, Petter; Thulin, Perla Cassayre; Sadikovic, Bekim; Genevieve, David Share Save
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
Characterization of a patient-derived variant of GPX4 for precision therapy Liu, Hengrui; Forouhar, Farhad; Seibt, Tobias; Saneto, Russell; Wigby, Kristen; Friedman, Jennifer; Xia, Xin; Shchepinov, Mikhail S.; Ramesh, Sanath Kumar; Conrad, Marcus; Stockwell, Brent R. Share Save
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