Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Massimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, Núria Muñoz-Subirana, Benjamin Rodriguez-Santiago, José Antonio Casado, Paula Rio, Christopher Bauser, Judith Reina-Castillón, Marcos Lopez-Sanchez, Lidia Gonzalez-Quereda, Pia Gallano, Albert Catalá, Ana Ruiz-Llobet, Isabel Badell, Cristina Diaz-Heredia, Raquel Hladun, Leonort Senent, Bienvenida Argiles, Juan Miguel Bergua Burgues, Fatima Bañez, Beatriz Arrizabalaga, Ricardo López Almaraz, Monica Lopez, Ángela Figuera, Antonio Molinés, Inmaculada Pérez de Soto, Inés Hernando, Juan Antonio Muñoz, Maria del Rosario Marin, Judith Balmaña, Neda Stjepanovic, Estela Carrasco, Isabel Cuesta, José Miguel Cosuelo, Alexandra Regueiro, José Moraleda Jimenez, Ana Maria Galera-Miñarro, Laura Rosiñol, Anna Carrió, Cristina Beléndez-Bieler, Antonio Escudero Soto, Elena Cela, Gregorio de la Mata, Rafael Fernández-Delgado, Maria Carmen Garcia-Pardos, Raquel Sáez-Villaverde, Marta Barragaño, Raquel Portugal, Francisco Lendinez, Ines Hernadez, José Manue Vagace, Maria Tapia, José Nieto, Marta Garcia, Macarena Gonzalez, Cristina Vicho, Eva Galvez, Alberto Valiente, Maria Luisa Antelo, Phil Ancliff, Francisco Garcia, Joaquin Dopazo, Julian Sevilla, Tobias Paprotka, Luis Alberto Pérez-Jurado, Juan Bueren, Jordi Surralles

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DOI: 10.1136/jmedgenet-2019-106249
Published: 2019-10-05
Container: Journal of Medical Genetics
Publisher: BMJ
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2019-106249,
  title = {Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies},
  author = {Massimo Bogliolo and Roser Pujol and Miriam Aza-Carmona and Núria Muñoz-Subirana and Benjamin Rodriguez-Santiago and José Antonio Casado and Paula Rio and Christopher Bauser and Judith Reina-Castillón and Marcos Lopez-Sanchez and Lidia Gonzalez-Quereda and Pia Gallano and Albert Catalá and Ana Ruiz-Llobet and Isabel Badell and Cristina Diaz-Heredia and Raquel Hladun and Leonort Senent and Bienvenida Argiles and Juan Miguel Bergua Burgues and Fatima Bañez and Beatriz Arrizabalaga and Ricardo López Almaraz and Monica Lopez and Ángela Figuera and Antonio Molinés and Inmaculada Pérez de Soto and Inés Hernando and Juan Antonio Muñoz and Maria del Rosario Marin and Judith Balmaña and Neda Stjepanovic and Estela Carrasco and Isabel Cuesta and José Miguel Cosuelo and Alexandra Regueiro and José Moraleda Jimenez and Ana Maria Galera-Miñarro and Laura Rosiñol and Anna Carrió and Cristina Beléndez-Bieler and Antonio Escudero Soto and Elena Cela and Gregorio de la Mata and Rafael Fernández-Delgado and Maria Carmen Garcia-Pardos and Raquel Sáez-Villaverde and Marta Barragaño and Raquel Portugal and Francisco Lendinez and Ines Hernadez and José Manue Vagace and Maria Tapia and José Nieto and Marta Garcia and Macarena Gonzalez and Cristina Vicho and Eva Galvez and Alberto Valiente and Maria Luisa Antelo and Phil Ancliff and Francisco Garcia and Joaquin Dopazo and Julian Sevilla and Tobias Paprotka and Luis Alberto Pérez-Jurado and Juan Bueren and Jordi Surralles},
  year = {2019},
  journal = {Journal of Medical Genetics},
  doi = {10.1136/jmedgenet-2019-106249},
  url = {https://doi.org/10.1136/jmedgenet-2019-106249}
}

RIS

TY  - JOUR
TI  - Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
AU  - Massimo Bogliolo
AU  - Roser Pujol
AU  - Miriam Aza-Carmona
AU  - Núria Muñoz-Subirana
AU  - Benjamin Rodriguez-Santiago
AU  - José Antonio Casado
AU  - Paula Rio
AU  - Christopher Bauser
AU  - Judith Reina-Castillón
AU  - Marcos Lopez-Sanchez
AU  - Lidia Gonzalez-Quereda
AU  - Pia Gallano
AU  - Albert Catalá
AU  - Ana Ruiz-Llobet
AU  - Isabel Badell
AU  - Cristina Diaz-Heredia
AU  - Raquel Hladun
AU  - Leonort Senent
AU  - Bienvenida Argiles
AU  - Juan Miguel Bergua Burgues
AU  - Fatima Bañez
AU  - Beatriz Arrizabalaga
AU  - Ricardo López Almaraz
AU  - Monica Lopez
AU  - Ángela Figuera
AU  - Antonio Molinés
AU  - Inmaculada Pérez de Soto
AU  - Inés Hernando
AU  - Juan Antonio Muñoz
AU  - Maria del Rosario Marin
AU  - Judith Balmaña
AU  - Neda Stjepanovic
AU  - Estela Carrasco
AU  - Isabel Cuesta
AU  - José Miguel Cosuelo
AU  - Alexandra Regueiro
AU  - José Moraleda Jimenez
AU  - Ana Maria Galera-Miñarro
AU  - Laura Rosiñol
AU  - Anna Carrió
AU  - Cristina Beléndez-Bieler
AU  - Antonio Escudero Soto
AU  - Elena Cela
AU  - Gregorio de la Mata
AU  - Rafael Fernández-Delgado
AU  - Maria Carmen Garcia-Pardos
AU  - Raquel Sáez-Villaverde
AU  - Marta Barragaño
AU  - Raquel Portugal
AU  - Francisco Lendinez
AU  - Ines Hernadez
AU  - José Manue Vagace
AU  - Maria Tapia
AU  - José Nieto
AU  - Marta Garcia
AU  - Macarena Gonzalez
AU  - Cristina Vicho
AU  - Eva Galvez
AU  - Alberto Valiente
AU  - Maria Luisa Antelo
AU  - Phil Ancliff
AU  - Francisco Garcia
AU  - Joaquin Dopazo
AU  - Julian Sevilla
AU  - Tobias Paprotka
AU  - Luis Alberto Pérez-Jurado
AU  - Juan Bueren
AU  - Jordi Surralles
PY  - 2019
JO  - Journal of Medical Genetics
DO  - 10.1136/jmedgenet-2019-106249
UR  - https://doi.org/10.1136/jmedgenet-2019-106249
ER  -

APA

Bogliolo, M., Pujol, R., Aza-Carmona, M., Muñoz-Subirana, N., Rodriguez-Santiago, B., Casado, J. A., Rio, P., Bauser, C., Reina-Castillón, J., Lopez-Sanchez, M., Gonzalez-Quereda, L., Gallano, P., Catalá, A., Ruiz-Llobet, A., Badell, I., Diaz-Heredia, C., Hladun, R., Senent, L., Argiles, B., Burgues, J. M. B., Bañez, F., Arrizabalaga, B., Almaraz, R. L., Lopez, M., Figuera, Á., Molinés, A., Soto, I. P. D., Hernando, I., Muñoz, J. A., Marin, M. D. R., Balmaña, J., Stjepanovic, N., Carrasco, E., Cuesta, I., Cosuelo, J. M., Regueiro, A., Jimenez, J. M., Galera-Miñarro, A. M., Rosiñol, L., Carrió, A., Beléndez-Bieler, C., Soto, A. E., Cela, E., Mata, G. D. L., Fernández-Delgado, R., Garcia-Pardos, M. C., Sáez-Villaverde, R., Barragaño, M., Portugal, R., Lendinez, F., Hernadez, I., Vagace, J. M., Tapia, M., Nieto, J., Garcia, M., Gonzalez, M., Vicho, C., Galvez, E., Valiente, A., Antelo, M. L., Ancliff, P., Garcia, F., Dopazo, J., Sevilla, J., Paprotka, T., Pérez-Jurado, L. A., Bueren, J., & Surralles, J. (2019). Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2019-106249

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crossref · retrieved 2026-09-26T04:06:51.907Z