A subtelomeric translocation apparently implied in multiple abortions

par Monfort, Sandra, Martínez, Francisco, Roselló, Mónica, Badia, Lourdes, Prieto, Félix, Orellana, Carmen
Publié 2006

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

par Mayo, Sonia, Monfort, Sandra, Roselló, Mónica, Oltra, Silvestre, Orellana, Carmen, Martínez, Francisco
Publié dans Biomed Res Int (2015)

Prevalence of pathogenic copy number variants among children conceived by donor oocyte

par Monfort, Sandra, Orellana, Carmen, Oltra, Silvestre, Rosello, Mónica, Caro-Llopis, Alfonso, Martinez, Francisco
Publié dans Sci Rep (2021)

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

par Mayo, Sonia, Monfort, Sandra, Roselló, Mónica, Orellana, Carmen, Oltra, Silvestre, Caro-Llopis, Alfonso, Martínez, Francisco
Publié dans Int J Genomics (2017)

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies

par Martínez, Francisco, Monfort, Sandra, Roselló, Mónica, Oltra, Silvestre, Blesa, David, Quiroga, Ramiro, Mayo, Sonia, Orellana, Carmen
Publié 2010

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

par Orellana, C, Bernabeu, Jordi, Monfort, Sandra, Rosello, Monica, Oltra, Juan Silvestre, Ferrer, Irene, Quiroga, Ramiro, Martinez-garay, Isabel, Martinez, Francisco
Publié 2009

Mixed Phenotype of Langer–Giedion's and Cornelia de Lange's Syndromes in an 8q23.3-q24.1 Microdeletion without TRPS1 Deletion

par Herrero-García, Ana, Marín-Reina, Purificación, Cabezuelo-Huerta, Gloria, Ferrer-Lorente, M. Belén, Rosello, Mónica, Orellana, Carmen, Martínez, Francisco, Pérez-Aytés, Antonio
Publié dans J Pediatr Genet (2020)

Multi-System Involvement in a Severe Variant of Fibrodysplasia Ossificans Progressiva (ACVR1 c.772G>A; R258G): A Report of Two Patients

par 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.
Publié dans Am J Med Genet A (2015)

A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

par D. Hidalgo-Santos, Antonio, del Carmen DeMingo-Alemany, Maria, Moreno-Macián, Francisca, Roselló, Mónica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, León-Cariñena, Sara, Tomás-Vila, Miguel
Publié dans Int J Endocrinol Metab (2018)

Identification of intellectual disability genes in female patients with a skewed X inactivation pattern

par Fieremans, Nathalie, Van Esch, Hilde, Holvoet, Maureen, Van Goethem, Gert, Devriendt, Koen, Rosello, Monica, Mayo, Sonia, Martinez, Francisco, Jhangiani, Shalini, Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Vermeesch, Joris R., Marynen, Peter, Froyen, Guy
Publié dans Hum Mutat (2016)

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

par 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
Publié 2012

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

par 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
Publié 2014

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

par 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
Publié dans J Clin Immunol (2015)

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

par 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.
Publié dans Eur J Hum Genet (2017)

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

par Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich, Zweier, Christiane
Publié dans Am J Hum Genet (2018)

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

par Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand
Publié dans Am J Hum Genet (2021)

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

par O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publié dans Am J Hum Genet (2015)

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

par Julián Nevado, Julián Nevado, Julián Nevado, Sixto García-Miñaúr, Sixto García-Miñaúr, Sixto García-Miñaúr, María Palomares-Bralo, María Palomares-Bralo, María Palomares-Bralo, Elena Vallespín, Elena Vallespín, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, Cristina Bel-Fenellós, María Ángeles Mori, María Ángeles Mori, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Jair Antonio Tenorio, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Elena Mansilla, Elena Mansilla, Isabel Vallcorba, Isabel Vallcorba, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publié 2022-04-01

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

par van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Publié dans Genet Med (2018)

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

par van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.
Publié dans Genet Med (2019)