Eduardo F Tizzano (Eduardo Tizzano)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 17

Top Topics

Dna Methylation

Congenital Heart Disease

Ejection Fraction

Top Venues

Journal of medical genetics

Annals of neurology

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, Marta Codina-Solà, Jordi Leno-Colorado, Marta Gómez-García De la Banda, Rocio Garcia-Uzquiano, Pascale Saugier-Veber, Séverine Drunat, Susana Quijano-Roy, Eduardo F Tizzano
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. Neurology. Genetics 10 (4) (2024)
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Andrea Katrinecz, Sonia Pascoal, Emma Hales, Marta Codina Solà, Maria Irene Valenzuela Palafoll, Eduardo F Tizzano, Giles Atton, Deirdre Donnelly, Nicola Foulds, Joanna Jarvis, Shane McKee, Michael O'Donoghue, Mohnish Suri, Pradeep Vasudevan, Kathy Stirrups, Natasha P Morgan, Kathleen Freson, Andrew D Mumford, Ernest Turro
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy. medRxiv : the preprint server for health sciences (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics 61 (9) (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics 61 (9) (2024)
Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin, Marta Codina-Solà, Jordi Leno-Colorado, Marta Gómez-García De la Banda, Rocio Garcia-Uzquiano, Pascale Saugier-Veber, Séverine Drunat, Susana Quijano-Roy, Eduardo F Tizzano
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. Neurology. Genetics 10 (4) (2024)
Vicken Y Totten, Gisela Teixidó, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart L Loeys, Maria Irene Valenzuela Palafoll
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome. Journal of medical genetics (2024)
Estela Carrasco, Adrià López-Fernández, Marta Codina-Sola, Irene Valenzuela, A M Cueto-González, Guillermo Villacampa, Victor Navarro, Sara Torres-Esquius, Dolors Palau, Mara Cruellas, Maite Torres, Belen Perez-Dueñas, Anna Abulí, Orland Diez, Constantino Sábado-Álvarez, Elena García-Arumí, Eduardo F Tizzano, Lucas Moreno, Judith Balmaña
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. Journal of medical genetics (2022)
John N Milligan, Laura Blasco-Pérez, Mar Costa-Roger, Marta Codina Solà, Eduardo F Tizzano
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows. Genes 13 (9) (2022)
Anna Abulí, Mar Costa-Roger, Marta Codina Solà, Maria Irene Valenzuela Palafoll, Jordi Leno-Colorado, Eulàlia Rovira-Moreno, Anna Maria Cueto-González, Paula Fernandez-Alvarez, Elena Garcia-Arumí, Ivon Cusco, Eduardo F Tizzano
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. Journal of medical genetics (2022)
Laura Blasco-Pérez, Ida Paramonov, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Pablo Fuentes-Prior, Ivon Cusco, Eduardo F Tizzano
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Human mutation 42 (6) (2021)
Justin O Szot, Anne M Slavotinek, Karen Chong, Oliver Brandau, Marjan M Nezarati, Anna M Cueto-González, Millan S Patel, W Patrick Devine, Shannon Rego, Alicia P Acyinena, Patrick Shannon, Diane Myles-Reid, Susan I Blaser, Tim VAN Mieghem, Halenur Yavuz-Kienle, Heyko Skladny, Kristen Miller, Miereia D T Riera, Silvia A Martínez, Eduardo F Tizzano, Lucie Dupuis, Dimitri J Stavropoulos, Vanda McNiven, Roberto Mendoza-Londono, Alison M Elliott, null null, Robert S Phillips, Gavin Chapman, Sally L Dunwoodie
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Human mutation 42 (7) (2021)
Paula Fernandez-Alvarez, Marta Codina-Sola, Irene Valenzuela, Gisela Teixidó-Turá, Anna Cueto-González, Ida Paramonov, María Antolín, Fermina López-Grondona, Teresa Vendrell, Artur Evangelista, Elena García-Arumí, Eduardo F Tizzano
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome. Journal of medical genetics (2021)
Ainhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio Federico Martínez-Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Del Campo, Encarna Guillén, Salva Ibañez, María J Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D Ortigoza-Escobar, María-Isabel Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A Mesas, María Obón, Alberto Plaja, Joaquín A Fernández-Ramos, Eduardo F Tizzano, Rosario Marín, José L Peña-Segura, Soledad Alcántara, Judith Armstrong
Molecular characterization of Spanish patients with MECP2 duplication syndrome. Clinical genetics 97 (4) (2020)
Eulàlia Rovira-Moreno, Anna Abuli, Marta Codina-Sola, Irene Valenzuela, Clara Serra-Juhe, Ivon Cuscó, Mar Borregán, Anna Cueto-González, Teresa Vendrell, Fermina López-Grondona, Carme Brun-Gasca, Eduardo Brignani, Laia Martínez-Ribot, Regla Garci-Espejo, Jordi Cruz, Elena García-Arumí, Eduardo F Tizzano
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases. Journal of genetic counseling 30 (3) (2020)
Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F Tizzano, Luitgard Graul-Neumann, Sabina Barresi, Gen Nishimura, Maria Irene Valenzuela Palafoll, Fermina López-Grondona, Paula Fernandez-Alvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia
Skeletal abnormalities are common features in Aymé-Gripp syndrome. Clinical genetics 97 (2) (2019)
Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, André Macedo Serafim da Silva, Umbertina C Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F Tizzano, Edmar Zanoteli
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0". Annals of neurology 86 (5) (2019)
Rodrigo H Mendonça, Antônio J Rocha, Andres Lozano-Arango, Astry B Diaz, Claudia Castiglioni, André Macedo Serafim da Silva, Umbertina C Reed, Leslie Kulikowski, Ida Paramonov, Ivon Cuscó, Eduardo F Tizzano, Edmar Zanoteli
Severe brain involvement in 5q spinal muscular atrophy type 0. Annals of neurology 86 (3) (2019)