Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study
González-Iglesias, Eva, López-Vázquez, Ana, Noval, Susana, Nieves-Moreno, María, Granados-Fernández, María, Arruti, Natalia, Rosa-Pérez, Irene, Pacio-Míguez, Marta, Montaño, Victoria E F, Rodríguez-Solana, Patricia, Del Pozo, Angela, Santos-Simarro, Fernando, Vallespín, Elena
Published in International journal of molecular sciences (11.04.2022)
Published in International journal of molecular sciences (11.04.2022)
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Journal Article
MAGEL2‐related disorders: A study and case series
Patak, Jameson, Gilfert, James, Byler, Melissa, Neerukonda, Vamsee, Thiffault, Isabelle, Cross, Laura, Amudhavalli, Shivarajan, Pacio‐Miguez, Marta, Palomares‐Bralo, Maria, Garcia‐Minaur, Sixto, Santos‐Simarro, Fernando, Powis, Zoe, Alcaraz, Wendy, Tang, Sha, Jurgens, Julie, Barry, Brenda, England, Eleina, Engle, Elizabeth, Hess, Jonathon, Lebel, Robert R.
Published in Clinical genetics (01.12.2019)
Published in Clinical genetics (01.12.2019)
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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
Pacio‐Miguez, Marta, Parrón‐Pajares, Manuel, Gordon, Christopher T., Santos‐Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F. Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Pozo, Ángela, Amiel, Jeanne, García‐Miñaur, Sixto, Palomares‐Bralo, María
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature
Siccha, Sofía M., Cueto, Anna María, Parrón‐Pajares, Manuel, González‐Morán, Gaspar, Pacio‐Miguez, Marta, Del Pozo, Ángela, Solís, Mario, Rodriguez‐Jimenez, Carmen, Caino, Silvia, Fano, Virginia, Heath, Karen E., García‐Miñaúr, Sixto, Palomares‐Bralo, María, Santos‐Simarro, Fernando
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse
Denommé-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, María, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, Gwenaël, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozières, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J., Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, Yalcin, Binnaz
Published in Genetics in medicine (01.07.2023)
Published in Genetics in medicine (01.07.2023)
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Journal Article
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability
Pacio Miguez, Marta, Santos‐Simarro, Fernando, García‐Miñaúr, Sixto, Velázquez Fragua, Ramón, Pozo, Ángela, Solís, Mario, Jiménez Rodríguez, Carmen, Rufo‐Rabadán, Virginia, Fernandez, Victoria Eugenia, Rueda, Inmaculada, Gomez del Pozo, Maria Victoria, Gallego, Natividad, Lapunzina, Pablo, Palomares‐Bralo, María
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Journal Article
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, 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., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, 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-François, 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.
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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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, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, 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
Published in Human molecular genetics (03.02.2022)
Published in Human molecular genetics (03.02.2022)
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Journal Article
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, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., Urreizti, Roser
Published in Pediatric neurology (01.06.2024)
Published in Pediatric neurology (01.06.2024)
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Journal Article
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
Pacio-Miguez, Marta, Parrón-Pajares, Manuel, Gordon, Christopher T, Santos-Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Del Pozo, Ángela, Amiel, Jeanne, García-Miñaur, Sixto, Palomares-Bralo, María
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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