Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier–Gorlin syndrome variant
Mehrjoo, Yosra, Campeau, Philippe M., Al Abdi, Lama, Aldowaish, Abdullah, Abouyousef, Omar, Alkuraya, Fowzan S., Codina‐Solà, Marta, Cueto‐González, Anna M., Wurtele, Hugo
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
Get full text
Journal Article
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
Shaheen, Ranad, Aglan, Mona, Keppler-Noreuil, Kim, Faqeih, Eissa, Ansari, Shinu, Horton, Kim, Ashour, Adel, Zaki, Maha S., Al-Zahrani, Fatema, Cueto-González, Anna M., Abdel-Salam, Ghada, Temtamy, Samia, Alkuraya, Fowzan S.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
Get full text
Journal Article
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder
Szot, Justin O., Slavotinek, Anne, Chong, Karen, Brandau, Oliver, Nezarati, Marjan, Cueto‐González, Anna M., Patel, Millan S., Devine, Walter P., Rego, Shannon, Acyinena, Alicia P., Shannon, Patrick, Myles‐Reid, Diane, Blaser, Susan, Mieghem, Tim V., Yavuz‐Kienle, Halenur, Skladny, Heyko, Miller, Kristen, Riera, Miereia D. T., Martínez, Silvia A., Tizzano, Eduardo F., Dupuis, Lucie, James Stavropoulos, Dimitri, McNiven, Vanda, Mendoza‐Londono, Roberto, Elliott, Alison M., Phillips, Robert S., Chapman, Gavin, Dunwoodie, Sally L.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
Get full text
Journal Article
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
Grimes, H, Ansari, M, Ashraf, T, Cueto-González, Anna Mª, Calder, A, Day, M, Fernandez Alvarez, P, Foster, A, Lahiri, N, Repetto, G M, Scurr, I, Varghese, V, Low, Karen J
Published in American journal of medical genetics. Part A (01.10.2023)
Published in American journal of medical genetics. Part A (01.10.2023)
Get full text
Journal Article
Correspondence on “Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype” by Zanoni et al
Cueto-González, Anna Ma, Fernández-Álvarez, Paula, Palafoll, Irene Valenzuela, Lasa-Aranzasti, Amaia, Vendrell Bayona, Teresa, Tizzano, Eduardo F.
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
Get full text
Journal Article
Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis
Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
Get full text
Journal Article
Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease
Grenier, Celine, Lopes, Filipa M., Cueto-González, Anna M., Rovira-Moreno, Eulàlia, Gander, Romy, Jarvis, Benjamin W., McCloskey, Karen D., Gurney, Alison M., Beaman, Glenda M., Newman, William G., Woolf, Adrian S., Roberts, Neil A.
Published in Kidney international reports (01.07.2023)
Published in Kidney international reports (01.07.2023)
Get full text
Journal Article
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)
Martin‐Nalda, Andrea, Cueto‐González, Anna M., Argudo‐Ramírez, Ana, Marin‐Soria, Jose L., Martinez‐Gallo, Monica, Colobran, Roger, Plaja, Albert, Castells, Neus, Riviere, Jacques, Tizzano, Eduardo F., Soler‐Palacin, Pere
Published in Molecular genetics & genomic medicine (01.12.2019)
Published in Molecular genetics & genomic medicine (01.12.2019)
Get full text
Journal Article
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region
Plaja, Alberto, Castells, Neus, Cueto-González, Anna M., del Campo, Miguel, Vendrell, Teresa, Lloveras, Elisabet, Izquierdo, Luis, Borregan, Mar, Rodríguez-Santiago, Benjamín, Carrió, Anna, Miró, Rosa, Tizzano, Eduardo
Published in Cytogenetic and genome research (01.11.2015)
Published in Cytogenetic and genome research (01.11.2015)
Get full text
Journal Article
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases
Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
Get full text
Journal Article
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Codina-Solà, Marta, Trujillano, Laura, Abulí, Anna, Rovira-Moreno, Eulàlia, Muñoz-Cabello, Patricia, Campos, Berta, Fernández-Álvarez, Paula, Palau, Dolors, Carrasco, Estela, Valenzuela, Irene, Cueto-González, Anna Maria, Lasa-Aranzasti, Amaia, Limeres, Javier, Leno-Colorado, Jordi, Costa-Roger, Mar, Moles-Fernández, Alejandro, Balmaña, Judith, Díez, Orland, Cuscó, Ivon, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
Get full text
Journal Article
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord
Wongkittichote, Parith, Choi, Tae‐Ik, Kim, Oc‐Hee, Riley, Kacie, Koeberl, Dwight, Narayanan, Vinodh, Ramsey, Keri, Balak, Chris, Schwartz, Charles E., Cueto‐Gonzalez, Anna Maria, Casadesus, Francina Munell, Kim, Cheol‐Hee, Shinawi, Marwan S.
Published in Clinical genetics (01.02.2023)
Published in Clinical genetics (01.02.2023)
Get full text
Journal Article
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio
Castells-Sarret, Neus, Cueto-González, Anna M, Borregan, Mar, López-Grondona, Fermina, Miró, Rosa, Tizzano, Eduardo, Plaja, Alberto
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2018)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.07.2018)
Get full text
Journal Article
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, Bokhoven, Hans, Jorge, Paula, Hagen, Johanna M., Brouwer, Arjan P. M.
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
Get full text
Journal Article
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
Santos-Simarro, Fernando, Pacio, Marta, Cueto-González, Anna María, Mansilla, Elena, Valenzuela-Palafoll, María Irene, López-Grondona, Fermina, Lledín, María Dolores, Schuffelmann, Cristina, del Pozo, Ángela, Solis, Mario, Vallcorba, Patricia, Lapunzina, Pablo, Menéndez Suso, Juan José, Siccha, Sofia M., Montejo, Juan Manuel, Mena, Rocío, Jiménez-Rodríguez, Carmen, García-Miñaúr, Sixto, Palomares-Bralo, María
Published in European journal of medical genetics (01.11.2021)
Published in European journal of medical genetics (01.11.2021)
Get full text
Journal Article
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes
Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Published in Scientific reports (10.03.2017)
Published in Scientific reports (10.03.2017)
Get full text
Journal Article
Beyond the disease itself: A cross‐cutting educational initiative for patients and families with rare diseases
Rovira‐Moreno, Eulàlia, Abuli, Anna, Codina‐Sola, Marta, Valenzuela, Irene, Serra‐Juhe, Clara, Cuscó, Ivon, Borregán, Mar, Cueto‐González, Anna, Vendrell, Teresa, López‐Grondona, Fermina, Brun‐Gasca, Carme, Brignani, Eduardo, Martínez‐Ribot, Laia, Garci‐Espejo, Regla, Cruz, Jordi, García‐Arumí, Elena, Tizzano, Eduardo F.
Published in Journal of genetic counseling (01.06.2021)
Published in Journal of genetic counseling (01.06.2021)
Get full text
Journal Article
Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
Cueto-González, Anna M., Fernández-Cancio, Mónica, Fernández-Alvarez, Paula, García-Arumí, Elena, Tizzano, Eduardo F.
Published in Human genome variation (08.06.2020)
Published in Human genome variation (08.06.2020)
Get full text
Journal Article
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Abulí, Anna, Costa-Roger, Mar, Codina-Solà, Marta, Valenzuela, Irene, Leno-Colorado, Jordi, Rovira-Moreno, Eulàlia, Cueto-González, Anna, Fernández-Álvarez, Paula, García-Arumí, Elena, Cuscó, Ivon, Tizzano, Eduardo F
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
Get full text
Journal Article
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Fernández-Álvarez, Paula, Codina-Sola, Marta, Valenzuela, Irene, Teixidó-Turá, Gisela, Cueto-González, Anna, Paramonov, Ida, Antolín, María, López-Grondona, Fermina, Vendrell, Teresa, Evangelista, Artur, García-Arumí, Elena, Tizzano, Eduardo F
Published in Journal of medical genetics (01.06.2022)
Published in Journal of medical genetics (01.06.2022)
Get full text
Journal Article