Publications
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Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 11
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Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P and Lapunzina P.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics . 13: 652454-652454. Number of citations: 32
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Parrado A, Rubio G, Serrano M, De la Morena-Barrio ME, Ibáñez-Micó S, Ruiz-Lafuente N, Schwartz-Albiez R, Esteve-Solé A, Alsina L, Corral J and Hernández-Caselles T.
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
Glycobiology . 32(2): 84-100. Number of citations: 4
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Ramon-Krauel M, Amat-Bou M, Serrano M, Martinez-Monseny T and Lerin C.
Targeting the Gut Microbiome in Prader-Willi Syndrome
Journal of Clinical Medicine . 10(22): 5328. Number of citations: 1
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Serrano M.
Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence
Frontiers in pediatrics . 9: 717864-717864. Number of citations: 8
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Rojano E, Córdoba-Caballero J, Jabato FM, Gallego D, Serrano M, Pérez B, Parés-Aguilar Á, Perkins JR, Ranea JAG and Seoane-Zonjic P.
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
Journal of Personalized Medicine . 11(8): 730. Number of citations: 2
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Cechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E and Sarafoglou K.
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
MOLECULAR GENETICS AND METABOLISM . 133(4): 397-399. Number of citations: 8
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Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Number of citations: 8
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García-García A, Buendia Arellano M, Deyà-Martinez A, Lozano-Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Luo Y, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP and Alsina L.
Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features
PEDIATRIC ALLERGY AND IMMUNOLOGY . 32(3): 566-575. Number of citations: 7
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Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong-Moron J, Renieri A and Mari F.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
CLINICAL GENETICS . 99(3): 462-474. Number of citations: 13