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Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis Dols-Icardo, Oriol; Carbayo, Alvaro; Jerico, Ivonne; Blasco-Martinez, Olga; Alvarez-Sanchez, Esther; Perez, Maria Angeles Lopez; Bernal, Sara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Turon-Sans, Janina; Cabezas-Torres, Manuel; Caballero-Avila, Marta; Vesperinas, Ana; Llanso, Laura; Pagola-Lorz, Inmaculada; Torne, Laura; Valle-Tamayo, Natalia; Munoz, Laia; Rubio-Guerra, Sara; Illan-Gala, Ignacio; Cortes-Vicente, Elena; Gelpi, Ellen; Rojas-Garcia, Ricard Share Save
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals Schmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar Share Save
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia Share Save
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples Abuli, Anna; Costa-Roger, Mar; Codina-Sola, Marta; Valenzuela, Irene; Leno-Colorado, Jordi; Rovira-Moreno, Eulalia; Cueto-Gonzalez, Anna; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Cusco, Ivon; Tizzano, Eduardo F. Share Save
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cusco, Ivon; Cusco, Ivon; Duran-Romana, Ramon; Ekhilevitch, Nina; Fernandez-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothee; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde Share Save
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history Codina-Sola, Marta; Trujillano, Laura; Abuli, Anna; Rovira-Moreno, Eulalia; Munoz-Cabello, Patricia; Campos, Berta; Fernandez-alvarez, Paula; Palau, Dolors; Carrasco, Estela; Valenzuela, Irene; Cueto-Gonzalez, Anna Maria.; Lasa-Aranzasti, Amaia; Limeres, Javier; Leno-Colorado, Jordi; Costa-Roger, Mar; Moles-Fernandez, Alejandro; Balmana, Judith; Diez, Orland; Cusco, Ivon; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel Share Save
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin Share Save
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients Blasco-Perez, Laura; Paramonov, Ida; Leno, Jordi; Bernal, Sara; Alias, Laura; Fuentes-Prior, Pablo; Cusco, Ivon; Tizzano, Eduardo F. Share Save
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Defective minor spliceosomem RNA processing results in isolated familial growth hormone deficiency (vol 12, e13133, 2020) Argente, Jesus; Flores, Raquel; Gutierrez-Arumi, Armand; Verma, Bhupendra; Martos-Moreno, Gabriel A.; Cusco, Ivon; Oghabian, Ali; Chowen, Julie A.; Frilander, Mikko J.; Perez-Jurado, Luis A. Share Save
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci Davis, Erica E.; Balasubramanian, Ravikumar; Kupchinsky, Zachary A.; Keefe, David L., Jr.; Plummer, Lacey; Khan, Kamal; Meczekalski, Blazej; Heath, Karen E.; Lopez-Gonzalez, Vanesa; Ballesta-Martinez, Mary J.; Margabanthu, Gomathi; Price, Susan; Greening, James; Brauner, Raja; Valenzuela, Irene; Cusco, Ivon; Fernandez-Alvarez, Paula; Wierman, Margaret E.; Li, Taibo; Lage, Kasper; Barroso, Priscila Sales; Chan, Yee-Ming; Crowley, William F.; Katsanis, Nicholas Share Save
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features Lehalle, Daphne; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogne, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpeleg, Orly; Fattal, Aviva; Genevieve, David; Guillen Sacoto, Maria J.; Guimier, Anne; Harris, David J.; Hempel, Maja; Isidor, Bertrand; Jouan, Thibaud; Kuentz, Paul; Koshimizu, Eriko; Lichtenbelt, Klaske; Loik Ramey, Valerie; Maik, Miriam; Miyakate, Sakoto; Murakami, Yoshiko; Pasquier, Laurent; Pedro, Helio; Simone, Laurie; Sondergaard-Schatz, Krista; St-Onge, Judith; Thevenon, Julien; Valenzuela, Irene; Abou Jamra, Rami; van Gassen, Koen; van Haelst, Mieke M.; van Koningsbruggen, Silvana; Verdura, Edgard; Whelan Habela, Christa; Zacher, Pia; Riviere, Jean-Baptiste; Thauvin-Robinet, Christel; Betschinger, Joerg; Faivre, Laurence Share Save
X-InDels efficacy evaluation in a critical samples paternity case: A Spanish Civil War case from the memorial of the camposines (Tarragona, Spain) Gomes, Claudia; Palomo-Diez, Sara; Baeza-Richer, Carlos; Maria Lopez-Parra, Ana; Cusco, Ivon; Garcia-Arumi, Elena; Tizzano, Eduardo; Fernandez-Vilela, Andrea; Lopez-Onaindia, Diego; Vidal Aixala, Ares; Escala Abad, Oscar; Domenech Casadevall, Gemma; Cuellar Gisbert, Juli; Arroyo-Pardo, Eduardo Share Save
Reply to Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 Mendonca, Rodrigo H.; Rocha, Antonio J.; Lozano-Arango, Andres; Diaz, Astry B.; Castiglioni, Claudia; Silva, Andre M. S.; Reed, Umbertina C.; Kulikowski, Leslie; Paramonov, Ida; Cusco, Ivon; Tizzano, Eduardo F.; Zanoteli, Edmar Share Save
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings Rudilla, Francesc; Franco-Jarava, Clara; Martinez-Gallo, Monica; Garcia-Prat, Marina; Martin-Nalda, Andrea; Riviere, Jacques; Aguilo-Cucurull, Aina; Mongay, Laura; Vidal, Francisco; Solanich, Xavier; Irastorza, Inaki; Luis Santos-Perez, Juan; Tercedor Sanchez, Jesus; Cusco, Ivon; Serra, Clara; Baz-Redon, Noelia; Fernandez-Cancio, Monica; Carreras, Carmen; Manuel Vagace, Jose; Garcia-Patos, Vicenc; Pujol-Borrell, Ricardo; Soler-Palacin, Pere; Colobran, Roger Share Save
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Severe brain involvement in 5q spinal muscular atrophy type 0 Mendonca, Rodrigo H.; Rocha, Antonio J.; Lozano-Arango, Andres; Diaz, Astry B.; Castiglioni, Claudia; Silva, Andre M. S.; Reed, Umbertina C.; Kulikowski, Leslie; Paramonov, Ida; Cusco, Ivon; Tizzano, Eduardo F.; Zanoteli, Edmar Share Save
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