Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
Arteche-López, A., Ávila-Fernández, A., Romero, R., Riveiro-Álvarez, R., López-Martínez, M. A., Giménez-Pardo, A., Vélez-Monsalve, C., Gallego-Merlo, J., García-Vara, I., Almoguera, Berta, Bustamante-Aragonés, A., Blanco-Kelly, F., Tahsin-Swafiri, S., Rodríguez-Pinilla, E., Minguez, P., Lorda, I., Trujillo-Tiebas, M. J., Ayuso, C.
Published in Scientific reports (11.03.2021)
Published in Scientific reports (11.03.2021)
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Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
BUSTAMANTE-ARAGONES, A., RODRIGUEZ DE ALBA, M., GONZALEZ-GONZALEZ, C., TRUJILLO-TIEBAS, M. J., DIEGO-ALVAREZ, D., VALLESPIN, E., PLAZA, J., AYUSO, C., RAMOS, C.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
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Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study
Bustamante-Aragones, A., Trujillo-Tiebas, M. J., Gallego-Merlo, J., Rodriguez de Alba, M., Gonzalez-Gonzalez, C., Cantalapiedra, D., Ayuso, C., Ramos, C.
Published in European journal of neurology (01.12.2008)
Published in European journal of neurology (01.12.2008)
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Journal Article
Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease
González-González, M. Cristina, Garcia-Hoyos, Maria, Trujillo-Tiebas, M. Jose, Bustamante Aragonés, A., Rodriguez de Alba, M., Alvarez, D. Diego, Diaz-Recasens, Joaquín, Ayuso, Carmen, Ramos, Carmen
Published in Journal of assisted reproduction and genetics (01.09.2008)
Published in Journal of assisted reproduction and genetics (01.09.2008)
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Journal Article
Five years’ experience of the clinical exome sequencing in a Spanish single center
Arteche-López, A., Ávila-Fernández, A., Riveiro Álvarez, R., Almoguera, B., Bustamante Aragonés, A., Martin-Merida, I., López Martínez, M. A., Giménez Pardo, A., Vélez-Monsalve, C., Gallego Merlo, J., García Vara, I., Blanco-Kelly, F., Tahsin Swafiri, S., Lorda Sánchez, I., Trujillo Tiebas, M. J., Ayuso, C.
Published in Scientific reports (10.11.2022)
Published in Scientific reports (10.11.2022)
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Journal Article
P19 Incorporation of non-invasive prenatal diagnosis in the management of PGD pregnancies: A new X-linked inmunodeficiency case
Bustamante-Aragones, A, de Alba, M. Rodriguez, Perlado, S, Trujillo-Tiebas, M.J, Gallego-Merlo, J, Rodriguez, L, Linares, C, Lorda, I, Hernandez, C, Plaza, J, Ramos, C
Published in Reproductive biomedicine online (01.05.2012)
Published in Reproductive biomedicine online (01.05.2012)
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Journal Article
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis
Vallespin, E, Avila-Fernandez, A, Almoguera, B, Velez-Monsalve, C, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.04.2010)
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Published in Human genetics (01.04.2010)
Journal Article
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)
Vallespin, Elena, Avila-Fernandez, A, Almoguera, B, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C
Published in Human genetics (01.01.2010)
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Published in Human genetics (01.01.2010)
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56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH
Bustamante-Aragones, A., Gallego-Merlo, J., Lorda-Sanchez, I., Rodriguez De Alba, M., Avila-Fernandez, A., Arteche-Lopez, A., Velez-Monsalve, C., Hernandez-Rodriguez, C., Rodriguez, L., Linares, C., Gago, M., Galan, I., Acebedo-Martin, B., Ayuso, C., Trujillo Tiebas, M.J.
Published in Reproductive biomedicine online (01.08.2019)
Published in Reproductive biomedicine online (01.08.2019)
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Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach
Diego-Alvarez, Dan, Ramos-Corrales, Carmen, Garcia-Hoyos, Maria, Bustamante-Aragones, Ana, Cantalapiedra, Diego, Diaz-Recasens, Joaquin, Vallespin-Garcia, Elena, Ayuso, Carmen, Lorda-Sanchez, Isabel
Published in Human reproduction (Oxford) (01.04.2006)
Published in Human reproduction (Oxford) (01.04.2006)
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