List of Publications
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Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders
Proietti Onori M, van Woerden GM
Brain research bulletin. 2021;171:209–20
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Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital
Santirocco M, Plaja A, Rodó C, Valenzuela I, Arévalo S, Castells N, Abuli A, Tizzano E, Maiz N, Carreras E
Prenatal diagnosis. 2021;41(1):123–35
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Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1
Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK
. Cold Spring Harbor molecular case studies. 2021;7(4)
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Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome
Tovy A, Rosas C, Gaikwad AS, Medrano G, Zhang L, Reyes JM, Huang Y-H, Arakawa T, Kurtz K, Conneely SE, Guzman AG, Aguilar R, Gao A, Chen C-W, Kim JJ, Carter MT, Lasa-Aranzasti A, Valenzuela I, van Maldergem L, Brunetti L, Hicks MJ, Marcogliese AN, Goodell MA, Rau RE
Haematologica. 2021 Jun 3
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Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF
Journal of genetic counseling. 2021;30(3):693–700
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Response to letter: A decision for life – Treatment decisions in newly diagnosed families with spinal muscular atrophy. European journal of paediatric neurology
Kirschner J, Butoianu N, Goemans N, Haberlova J, Kostera-Pruszczyk A, Mercuri E, van der Pol WL, Quijano-Roy S, Sejersen T, Tizzano EF, Ziegler A, Servais L, Muntoni F
EJPN : official journal of the European Paediatric Neurology Society. 2021;30:103–4
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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
Blasco-Pérez L, Paramonov I, Leno J, Bernal S, Alias L, Fuentes-Prior P, Cuscó I, Tizzano EF
Human mutation. 2021;42(6):787–95
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Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P
Genes. 2021;12(5)
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A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF
Journal of medical genetics. 2021 Apr 28
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Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis
Calucho M, Gartner S, Barranco P, Fernández-Álvarez P, Pérez RG, Tizzano EF
Scientific reports. 2021;11(1):15511