Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

per García-Hernández, Juan L., Corchete, Luis A., Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Fons, Carmen, Lazo, Pedro A.
Publicat a Hum Genomics (2021)

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases

per Buey, Rubén M., Fernández-Justel, David, Marcos-Alcalde, Íñigo, Winter, Graeme, Gómez-Puertas, Paulino, de Pereda, José María, Luis Revuelta, José
Publicat a Sci Rep (2017)

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

per Lazo, Pedro A., García, Juan L., Gómez-Puertas, Paulino, Marcos-Alcalde, Íñigo, Arjona, Cesar, Villarroel, Alvaro, González-Sarmiento, Rogelio, Fons, Carmen
Publicat a Int J Mol Sci (2020)

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

per Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Publicat a Int J Mol Sci (2018)

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

per Marcos, Ana T., Martín‐Doncel, Elena, Morejón‐García, Patricia, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Segura‐Puimedon, María, Armengol, Lluis, Navarro‐Pando, José M., Lazo, Pedro A.
Publicat a Ann Clin Transl Neurol (2020)

Two-step ATP-driven opening of cohesin head

per Marcos-Alcalde, Íñigo, Mendieta-Moreno, Jesús I., Puisac, Beatriz, Gil-Rodríguez, María Concepción, Hernández-Marcos, María, Soler-Polo, Diego, Ramos, Feliciano J., Ortega, José, Pié, Juan, Mendieta, Jesús, Gómez-Puertas, Paulino
Publicat a Sci Rep (2017)

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

per Latorre-Pellicer, Ana, Ascaso, Ángela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antoñanzas-Pérez, Rebeca, Marcos-Alcalde, Iñigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J., Ramos, Feliciano J., Gómez-Puertas, Paulino, Pié, Juan
Publicat a Int J Mol Sci (2020)

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

per Latorre-Pellicer, Ana, Gil-Salvador, Marta, Parenti, Ilaria, Lucia-Campos, Cristina, Trujillano, Laura, Marcos-Alcalde, Iñigo, Arnedo, María, Ascaso, Ángela, Ayerza-Casas, Ariadna, Antoñanzas-Pérez, Rebeca, Gervasini, Cristina, Piccione, Maria, Mariani, Milena, Weber, Axel, Kanber, Deniz, Kuechler, Alma, Munteanu, Martin, Khuller, Katharina, Bueno-Lozano, Gloria, Puisac, Beatriz, Gómez-Puertas, Paulino, Selicorni, Angelo, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan
Publicat a Sci Rep (2021)

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

per Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicat a Hum Genet (2020)