| De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes MC Gil‐Rodríguez, MA Deardorff, M Ansari, CA Tan, I Parenti, ... Human mutation 36 (4), 454-462, 2015 | 106 | 2015 |
| MEPSA: minimum energy pathway analysis for energy landscapes I Marcos-Alcalde, J Setoain, JI Mendieta-Moreno, J Mendieta, ... Bioinformatics 31 (23), 3853-3855, 2015 | 93 | 2015 |
| Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes A Latorre-Pellicer, Á Ascaso, L Trujillano, M Gil-Salvador, M Arnedo, ... International Journal of Molecular Sciences 21 (3), 1042, 2020 | 57 | 2020 |
| A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases RM Buey, D Fernández-Justel, Í Marcos-Alcalde, G Winter, ... Scientific reports 7 (1), 2648, 2017 | 45 | 2017 |
| Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 LC Krab, I Marcos-Alcalde, M Assaf, M Balasubramanian, JB Andersen, ... Human genetics 139 (5), 575-592, 2020 | 34 | 2020 |
| Two-step ATP-driven opening of cohesin head Í Marcos-Alcalde, JI Mendieta-Moreno, B Puisac, MC Gil-Rodríguez, ... Scientific Reports 7 (1), 3266, 2017 | 32 | 2017 |
| DLG4-related synaptopathy: a new rare brain disorder A Rodríguez-Palmero, MM Boerrigter, D Gómez-Andrés, KA Aldinger, ... Genetics in Medicine 23 (5), 888-899, 2021 | 28 | 2021 |
| Human mitochondrial HMG-CoA synthase deficiency: Role of enzyme dimerization surface and characterization of three new patients B Puisac, I Marcos-Alcalde, M Hernández-Marcos, P Tobajas Morlana, ... International journal of molecular sciences 19 (4), 1010, 2018 | 25 | 2018 |
| MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces I Marcos-Alcalde, E López-Viñas, P Gómez-Puertas Bioinformatics 36 (3), 956-958, 2020 | 20 | 2020 |
| Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood A Latorre-Pellicer, M Gil-Salvador, I Parenti, C Lucia-Campos, L Trujillano, ... Scientific Reports 11 (1), 15459, 2021 | 14 | 2021 |
| A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4–Review of the literature S Gudmundsson, G Annéren, Í Marcos-Alcalde, M Wilbe, M Melin, ... European journal of medical genetics 62 (6), 103526, 2019 | 14 | 2019 |
| The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder S Kumble, AM Levy, J Punetha, H Gao, N Ah Mew, K Anyane‐Yeboa, ... Human mutation 43 (2), 266-282, 2022 | 12 | 2022 |
| Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase D Fernández‐Justel, Í Marcos‐Alcalde, F Abascal, N Vidaña, ... Protein Science 31 (5), e4314, 2022 | 10 | 2022 |
| VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy AT Marcos, E Martín‐Doncel, P Morejón‐García, I Marcos‐Alcalde, ... Annals of clinical and translational neurology 7 (5), 808-818, 2020 | 10 | 2020 |
| Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome JL García-Hernández, LA Corchete, Í Marcos-Alcalde, P Gómez-Puertas, ... Human genomics 15, 1-11, 2021 | 7 | 2021 |
| Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome PA Lazo, JL García, P Gómez-Puertas, Í Marcos-Alcalde, C Arjona, ... International Journal of Molecular Sciences 21 (12), 4447, 2020 | 6 | 2020 |
| A practical quantum mechanics molecular mechanics method for the dynamical study of reactions in biomolecules JI Mendieta-Moreno, I Marcos-Alcalde, DG Trabada, P Gómez-Puertas, ... Advances in protein chemistry and structural biology 100, 67-88, 2015 | 6 | 2015 |
| Simulation of Catalytic Water Activation in Mitochondrial F1-ATPase Using a Hybrid Quantum Mechanics/Molecular Mechanics Approach: An Alternative Role for β … F Martín-García, JI Mendieta-Moreno, I Marcos-Alcalde, P Gómez-Puertas, ... Biochemistry 52 (5), 959-966, 2013 | 5 | 2013 |
| Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia P Morejon-Garcia, B Keren, I Marcos-Alcalde, P Gomez-Puertas, ... Neurology Genetics 7 (5), 2021 | 3 | 2021 |
| Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11 A Latorre‐Pellicer, Á Ascaso, C Lucia‐Campos, M Gil‐Salvador, ... Molecular Genetics & Genomic Medicine 9 (11), 2021 | 1 | 2021 |
Paulino Gomez-PuertasCientífico Titular CSIC. Centro de Biología Molecular "Severo Ochoa".Подтвержден адрес электронной почты в домене cbm.csic.es
