Prevalence of pathogenic copy number variants among children conceived by donor oocyte von Monfort, Sandra, Orellana, Carmen, Oltra, Silvestre, Rosello, Mónica, Caro-Llopis, Alfonso, Martinez, Francisco

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Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion von Herrero-García, Ana, Marín-Reina, Purificación, Cabezuelo-Huerta, Gloria, Ferrer-Lorente, M. Belén, Rosello, Mónica, Orellana, Carmen, Martínez, Francisco, Pérez-Aytés, Antonio

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients von Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A

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Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome von Orellana, Carmen, Roselló, Mónica, Monfort, Sandra, Mayo, Sonia, Oltra, Silvestre, Martínez, Francisco

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Expanding the phenotype of PIGP deficiency to multiple congenital anomalies‐hypotonia‐seizures syndrome von Martín‐Grau, Carla, Orellana Alonso, Carmen, Roselló Piera, Mónica, Pedrola Vidal, Laia, Llorens‐Salvador, Roberto, Quiroga, Ramiro, Marín Reina, Purificación, Rubio Moll, Juan Salvador, Gómez Portero, Rosa, Martínez‐Castellano, Francisco

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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes von Martinez, Francisco, Marín-Reina, Purificación, Sanchis-Calvo, Amparo, Perez-Aytés, Antonio, Oltra, Silvestre, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Pantoja, Jorge, Orellana, Carmen

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A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome von Preiksaitiene, Egle, Caro, Alfonso, Benušienė, Eglė, Oltra, Silvestre, Orellana, Carmen, Morkūnienė, Aušra, Roselló, Mónica Pilar, Kasnauskiene, Jurate, Monfort, Sandra, Kučinskas, Vaidutis, Mayo, Sonia, Martinez, Francisco

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Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants von Gabaldón-Albero, Alba, Smeyers, Patricia, Hernández-Muela, Sara, Roselló, Mónica, Orellana, Carmen, Monfort, Sandra, Oltra, Silvestre, Martínez, Francisco

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Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene von Martínez, Francisco, Roselló, Mónica, Mayo, Sonia, Monfort, Sandra, Oltra, Silvestre, Orellana, Carmen

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Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain von Pedrola Vidal, Laia, Roselló Piera, Mónica, Martín-Grau, Carla, Rubio Moll, Juan S, Gómez Portero, Rosa, Marcos Puig, Beatriz, Cervera Zamora, Jose V, Quiroga, Ramiro, Orellana Alonso, Carmen

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Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder von Mayo, Sonia, Roselló, Mónica, Monfort, Sandra, Oltra, Silvestre, Orellana, Carmen, Martínez, Francisco

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements von Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter

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Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients von Kaplan, Frederick S., Kobori, Joyce A., Orellana, Carmen, Calvo, Inmaculada, Rosello, Monica, Martinez, Francisco, Lopez, Berta, Xu, Meiqi, Pignolo, Robert J., Shore, Eileen M., Groppe, Jay C.

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Phenotype profiling of patients with intellectual disability and copy number variations von Roselló, Mónica, Martínez, Francisco, Monfort, Sandra, Mayo, Sonia, Oltra, Silvestre, Orellana, Carmen

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Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome von Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst

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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder von Mullegama, Sureni V, Rosenfeld, Jill A, Orellana, Carmen, van Bon, Bregje W M, Halbach, Sara, Repnikova, Elena A, Brick, Lauren, Li, Chumei, Dupuis, Lucie, Rosello, Monica, Aradhya, Swaroop, Stavropoulos, D James, Manickam, Kandamurugu, Mitchell, Elyse, Hodge, Jennelle C, Talkowski, Michael E, Gusella, James F, Keller, Kory, Zonana, Jonathan, Schwartz, Stuart, Pyatt, Robert E, Waggoner, Darrel J, Shaffer, Lisa G, Lin, Angela E, de Vries, Bert B A, Mendoza-Londono, Roberto, Elsea, Sarah H

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Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability von Martínez, Francisco, Oltra, Silvestre, Orellana, Carmen, Roselló, Mónica, Monfort, Sandra, Mayo, Sonia, Caro-Llopis, Alfonso

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In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients von Orellana, Carmen, Oltra, Silvestre, Roselló, Mónica, Monfort, Sandra, Mayo, Sonia, Martínez, Francisco

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Expression of aquaporins early in human pregnancy von Escobar, Javier, Gormaz, María, Arduini, Alessandro, Gosens, Karien, Martinez, Anabel, Perales, Alfredo, Escrig, Raquel, Tormos, Enrique, Roselló, Mónica, Orellana, Carmen, Vento, Máximo

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Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies von Martínez, Francisco, Monfort, Sandra, Roselló, Mónica, Oltra, Silvestre, Blesa, David, Quiroga, Ramiro, Mayo, Sonia, Orellana, Carmen

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