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E. Tizzano · SciRah

Researcher profile · Semantic Scholar

E. Tizzano

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E. Tizzano — researcher profile on SciRah

h-index: 41
Works: 268
Citations: 8,126

Most-cited papers

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
F. Boemer, J. Caberg, P. Beckers, V. Dideberg +21 more
2021Scientific Reports71 citations Open access
Semantic Scholar
Challenges and opportunities in spinal muscular atrophy therapeutics.
Crystal J J Yeo, E. Tizzano, Basil T. Darras
2024Lancet Neurology64 citations
Semantic Scholar
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
L. Servais, John W. Day, D. De Vivo, Janbernd Kirschner +15 more
2024Journal of Neuromuscular Diseases51 citations Open access
Semantic Scholar
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Gemma Bullich, L. Matalonga, M. Pujadas, Anastasios Papakonstantinou +22 more
2022Journal of Molecular Diagnostics51 citations Open access
Semantic Scholar
Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
I. Cuscó, S. Bernal, L. Blasco-Pérez, Maite Calucho +3 more
2020Neurology: Genetics49 citations Open access
Semantic Scholar
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, K. De Wispelaere, Jon Lees, M. Codina-Solà +48 more
2025Nature Genetics47 citations Open access
Semantic Scholar
Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
Crystal M. Proud, E. Mercuri, R. Finkel, Janbernd Kirschner +10 more
2023Annals of Clinical and Translational Neurology38 citations Open access
Semantic Scholar
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
L. Blasco-Pérez, Ida Paramonov, Jordi Leno, S. Bernal +4 more
2021Human Mutation38 citations Open access
Semantic Scholar
2024 update: European consensus statement on gene therapy for spinal muscular atrophy.
J. Kirschner, G. Bernert, N. Butoianu, L. De Waele +15 more
2024European journal of paediatric neurology37 citations Open access
Semantic Scholar
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
M. Costa-Roger, L. Blasco-Pérez, I. Cuscó, E. Tizzano
2021International Journal of Molecular Sciences37 citations Open access
Semantic Scholar
Natural history of KBG syndrome in a large European cohort
L. Loberti, L. Bruno, Stefania Granata, Gabriella Doddato +55 more
2022Human Molecular Genetics30 citations Open access
Semantic Scholar
Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review
J. Tenorio-Castaño, Beatriz Morte, J. Nevado, V. Martínez-Glez +27 more
2021Genes28 citations Open access
Semantic Scholar
New Cases that Expand the Genotypic and Phenotypic Spectrum of Congenital NAD Deficiency Disorder
J. Szot, A. Slavotinek, K. Chong, O. Brandau +24 more
2021Human Mutation27 citations Open access
Semantic Scholar
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
M. Ricci, G. Cicala, A. Capasso, G. Coratti +32 more
2023Annals of Neurology22 citations Open access
Semantic Scholar
Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation
Amaia Lasa-Aranzasti, Y. Larasati, Juliana Silva Cardoso, Gonzalo P. Solis +11 more
2024Movement Disorders21 citations Open access
Semantic Scholar
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
L. Blasco-Pérez, M. Costa-Roger, J. Leno-Colorado, S. Bernal +20 more
2022International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
In utero therapy for spinal muscular atrophy: closer to clinical translation
E. Tizzano, Georg Lindner, Ellie M. Chilcott, Richard S. Finkel +1 more
2025Brain : a journal of neurology18 citations Open access
Semantic Scholar
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies
S. Bernal, I. Peláez, L. Alías, M. Baena +6 more
2021International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
John N. Milligan, L. Blasco-Pérez, M. Costa-Roger, M. Codina-Solà +1 more
2022Genes15 citations Open access
Semantic Scholar
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy
M. Costa-Roger, L. Blasco-Pérez, L. Gerin, M. Codina-Solà +7 more
2024Neurology: Genetics14 citations Open access
Semantic Scholar
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy
M. M. Zwartkruis, M. Elferink, D. Gommers, I. Signoria +16 more
2024Genome Medicine13 citations Open access
Semantic Scholar
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy
M. G. Cattinari, M. de Lemus, E. Tizzano
2024Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
E. Abiusi, M. Costa-Roger, E. Bertini, F. Tiziano +1 more
2023Neuromuscular Disorders12 citations Open access
Semantic Scholar
Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy
Stephen M Brown, Aparna S Ajjarapu, Divya Ramachandra, L. Blasco-Pérez +4 more
2024Annals of Clinical and Translational Neurology11 citations Open access
Semantic Scholar
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
I. Valenzuela, M. Codina-Solà, Elida Vázquez, A. Cueto-González +8 more
2024Genetics in Medicine11 citations
Semantic Scholar
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
N. Baz-Redón, S. Rovira-Amigo, Ida Paramonov, Silvia Castillo-Corullón +24 more
2020Archivos de Bronconeumologia11 citations Open access
Semantic Scholar
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
S. Haghshenas, A. Putoux, Jack Reilly, M. Levy +21 more
2024Genetics in Medicine10 citations Open access
Semantic Scholar
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
D. Sánchez-Tejerina, P. F. Álvarez, E. Lainez, Victoria Gonzalez Martinez +12 more
2023Journal of Neurological Sciences10 citations
Semantic Scholar
Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec.
E. Tizzano, S. Quijano-Roy, L. Servais, J. Parsons +3 more
2024European journal of paediatric neurology9 citations Open access
Semantic Scholar
Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis
Maite Calucho, S. Gartner, P. Barranco, Paula Fernández-Álvarez +2 more
2021Scientific Reports9 citations Open access
Semantic Scholar
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients
A. Barbero, I. Valenzuela, Paula Fernández-Álvarez, Elida Vázquez +6 more
2024American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders
E. Carrasco, A. López-Fernández, M. Codina-Solà, I. Valenzuela +15 more
2022Journal of Medical Genetics8 citations Open access
Semantic Scholar
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum
Florencia Pérez-Vidarte, B. Estévez-Arias, L. Matalonga, D. Yubero +10 more
2025Annals of Clinical and Translational Neurology7 citations Open access
Semantic Scholar
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.
Liselot van der Laan, R. Relator, I. Valenzuela, A. Mul +12 more
2025Genetics in Medicine7 citations Open access
Semantic Scholar
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome
Laura Trujillano, I. Valenzuela, M. Costa-Roger, I. Cuscó +34 more
2025Clinical Genetics7 citations
Semantic Scholar
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
S. Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung-Chien Hsieh +127 more
2024medRxiv7 citations Open access
Semantic Scholar
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, G. A. Español +6 more
2024Open Biology7 citations Open access
Semantic Scholar
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture
Neftalí Vazquez, Chanjae Lee, I. Valenzuela, Thao P Phan +25 more
2024bioRxiv6 citations
Semantic Scholar
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era
E. Rovira-Moreno, A. Abulí, Patricia Muñoz-Cabello, M. Codina-Solà +4 more
2023Genetics in medicine open6 citations Open access
Semantic Scholar
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2
I. Valenzuela, Elena Guillén Benítez, Á. Sánchez-Montáñez, J. Limeres +3 more
2021American Journal of Medical Genetics. Part A6 citations
Semantic Scholar
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Paula Fernández-Álvarez, M. Codina-Solà, I. Valenzuela, Gisela Teixidó-Turá +8 more
2021Journal of Medical Genetics6 citations
Semantic Scholar
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project
C. Puig-Ram, Sonia Segovia, R. Garcia-Uzquiano, N. C. Nungo-Garzon +28 more
2025Journal of Neuromuscular Diseases5 citations Open access
Semantic Scholar
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly
Lei Ji, Jin Yan, Nicole A. Losurdo, Hua Wang +45 more
2025Journal of Clinical Investigation5 citations Open access
Semantic Scholar
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, K. De Wispelaere, Jon Lees, Andrea Katrinecz +18 more
2024medRxiv5 citations Open access
Semantic Scholar
An integral approach to the molecular diagnosis of tuberous sclerosis complex: the role of mosaicism and splicing variants.
L. Blasco-Pérez, Leticia Iranzo-Nuez, R. López-Ortega, Desirée Martínez-Cruz +5 more
2023Journal of Molecular Diagnostics5 citations
Semantic Scholar
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
A. Abulí, M. Costa-Roger, M. Codina-Solà, I. Valenzuela +7 more
2022Journal of Medical Genetics5 citations
Semantic Scholar
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
M. Codina-Solà, Laura Trujillano, A. Abulí, E. Rovira-Moreno +17 more
2022European Journal of Human Genetics5 citations Open access
Semantic Scholar
Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
N. Baz-Redón, S. Rovira-Amigo, Ida Paramonov, Silvia Castillo-Corullón +24 more
20215 citations
Semantic Scholar
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy
F. Tiziano, E. Tizzano
2020Acta myologica5 citations
Semantic Scholar
Genetic counseling in pediatrics: Clinical implications and challenges in genomic medicine.
Diana Salinas Chaparro, Patricia Muñoz-Cabello, Gema Escribano Serrano, Maite Torres López +3 more
2025Anales de Pediatría4 citations Open access
Semantic Scholar

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M. Codina-Solà×13
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M. Codina-Solà — researcher profile on SciRah
L. Blasco-Pérez×10
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L. Blasco-Pérez — researcher profile on SciRah
I. Cuscó×10
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I. Valenzuela — researcher profile on SciRah

Amaia Lasa-Aranzasti×8

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I. Valenzuela — researcher profile on SciRah

Paula Fernández-Álvarez×6

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Paula Fernández-Álvarez — researcher profile on SciRah

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S. Quijano-Roy — researcher profile on SciRah

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Laura Trujillano — researcher profile on SciRah