Not logged in Rapid genome sequencing in neonatal and pediatric intensive care units. Evidence and current situation Miguez, Marta Pacio; Garcia-Min, Sixto; Del Pozo, Angela; Suso, Juan Jose Menendez; Alcala, Francisco J. Climent; Holgado, Maria Sanchez; Garcia, Patricia Alvarez; Rodriguez, Carmen Jimenez; Santos-Simarro, Fernando; Palomares-Bralo, Maria Share Save
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Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies Lubin, Emily E.; Gonzalez, Elizabeth M.; Sangree, Annabel K.; Durham, Emily L.; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M.; Layo-Carris, Dana E.; Clark, Kelly J.; Melendez-Perez, Ashley J.; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E.; Barakat, Tahsin Stefan; Mercier, Sandra; Cogne, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; Cano, Maria de los Gomez; Palomares-Bralo, Maria; Arevalo, Tania Barragan; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P.; Ahrens-Nicklas, Rebecca C.; Nomakuchi, Tomoki T.; Bhoj, Elizabeth J. K. Share Save
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T.; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlene; Lee, Kristen N.; Beil, Adelyn; Suri, Mohnish; Guerin, Francois; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, Francois; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D.; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N.; Wentzensen, Ingrid M.; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel 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
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A. Share Save
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser Share Save
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability Baca, Maria del Rocio Perez; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; Mcconkey, Haley; Chen, Chun -An; Batzir, Nurit Assia; Wang, Xia; Palomares, Maria; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Bjorn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert Share Save
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse Denomme-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, Marta; Santos-Simarro, Fernando; Pacio-Miguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenael; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozieres, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz Share Save
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; Garcia-Minaur, Sixto; Mori, Maria Angeles; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Fonz, Raquel Bernado; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begona; Eiris, Jesus; Garcia-Penas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernandez-Jaen, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-Gonzalez, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio; Lorda-Sanchez, Isabel; Almoguera, Berta Share Save
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Kayumi, Sayaka; Perez-Jurado, Luis A.; Palomares, Maria; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; Garcia-Minaur, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Miguez, Marta; del Pozo, Angela; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; de Nanclares, Guiomar Perez; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernandez-Cuesta, Maria Angeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P. A.; Sinnema, Margje; Stevens, Servi C. J.; Nicolai, Joost; Lesca, Gaetan; Lion-Francois, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark 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
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep Share Save
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Abou Jamra, Rami; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frederic; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Bjorn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christele; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey; Au, Ping Yee Billie; Shashi, Vandana Share Save
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Jun, 10.1038/s41436-021-01232-8, 2021) Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frederic; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Bjorn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christele; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Rush, Eric; Pitt, Geoffrey S.; Au, Ping Yee Billie; Shashi, Vandana Share Save
De novo missense variants in FBXO11 alter its protein expression and subcellular localization Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R.; Bernat, John A.; Bombei, Hannah M.; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stobe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; Popp, Bernt; Vasileiou, Georgia; Hebebrand, Moritz; Reis, Andre; Schuhmann, Sarah; Krumbiegel, Mandy; Brown, Natasha J.; Sparber, Peter; Melikyan, Lyusya; Bessonova, Liudmila; Cherevatova, Tatiana; Sharkov, Artem; Shcherbakova, Natalia; Dabir, Tabib; Kini, Usha; Schwaibold, Eva M. C.; Haack, Tobias B.; Bertoli, Marta; Hoffjan, Sabine; Falb, Ruth; Shinawi, Marwan; Sticht, Heinrich; Zweier, Christiane Share Save
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