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ArticlesPeer ReviewedFull Text
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes
Author / Creator:Moles-Fernández, Alejandro ; Domènech-Vivó, Joanna ; Tenés, Anna ; Balmaña, Judith ; Diez, Orland ; Gutiérrez-Enríquez, Sara
Publisher:Basel: MDPI AG
Journal title:Cancers, 2021-07, Vol.13 (13), p.3341
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ArticlesPeer ReviewedFull Text
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
Author / Creator:Bonache, Sandra ; Esteban, Irene ; Moles-Fernández, Alejandro ; Tenés, Anna ; Duran-Lozano, Laura ; Montalban, Gemma ; Bach, Vanessa ; Carrasco, Estela ; Gadea, Neus ; López-Fernández, Adrià ; Torres-Esquius, Sara ; Mancuso, Francesco ; Caratú, Ginevra ; Vivancos, Ana ; Tuset, Noemí ; Balmaña, Judith ; Gutiérrez-Enríquez, Sara ; Diez, Orland
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of cancer research and clinical oncology, 2018-12, Vol.144 (12), p.2495-2513
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ArticlesPeer ReviewedFull Text
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing
Author / Creator:Whiley, Phillip J ; de la Hoya, Miguel ; Thomassen, Mads ; Becker, Alexandra ; Brandão, Rita ; Pedersen, Inge Sokilde ; Montagna, Marco ; Menéndez, Mireia ; Quiles, Francisco ; Gutiérrez-Enríquez, Sara ; De Leeneer, Kim ; Tenés, Anna ; Montalban, Gemma ; Tserpelis, Demis ; Yoshimatsu, Toshio ; Tirapo, Carole ; Raponi, Michela ; Caldes, Trinidad ; Blanco, Ana ; Santamariña, Marta ; Guidugli, Lucia ; de Garibay, Gorka Ruiz ; Wong, Ming ; Tancredi, Mariella ; Fachal, Laura ; Ding, Yuan Chun ; Kruse, Torben ; Lattimore, Vanessa ; Kwong, Ava ; Chan, Tsun Leung ; Colombo, Mara ; De Vecchi, Giovanni ; Caligo, Maria ; Baralle, Diana ; Lázaro, Conxi ; Couch, Fergus ; Radice, Paolo ; Southey, Melissa C ; Neuhausen, Susan ; Houdayer, Claude ; Fackenthal, Jim ; Hansen, Thomas Van Overeem ; Vega, Ana ; Diez, Orland ; Blok, Rien ; Claes, Kathleen ; Wappenschmidt, Barbara ; Walker, Logan ; Spurdle, Amanda B ; Brown, Melissa A
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2014-02, Vol.60 (2), p.341-352
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ArticlesPeer ReviewedFull Text
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer
Author / Creator:Montalban, Gemma ; Bonache, Sandra ; Moles-Fernández, Alejandro ; Gisbert-Beamud, Alexandra ; Tenés, Anna ; Bach, Vanessa ; Carrasco, Estela ; López-Fernández, Adrià ; Stjepanovic, Neda ; Balmaña, Judith ; Diez, Orland ; Gutiérrez-Enríquez, Sara
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-02, Vol.56 (2), p.63-74
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ArticlesPeer ReviewedFull Text
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
Author / Creator:Duran-Lozano, Laura ; Montalban, Gemma ; Bonache, Sandra ; Moles-Fernández, Alejandro ; Tenés, Anna ; Castroviejo-Bermejo, Marta ; Carrasco, Estela ; López-Fernández, Adrià ; Torres-Esquius, Sara ; Gadea, Neus ; Stjepanovic, Neda ; Balmaña, Judith ; Gutiérrez-Enríquez, Sara ; Diez, Orland
Publisher:New York: Springer US
Journal title:Breast cancer research and treatment, 2019-04, Vol.174 (2), p.543-550
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ArticlesPeer ReviewedFull Text
Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
Author / Creator:Bonache, Sandra ; de la Hoya, Miguel ; Gutierrez-Enriquez, Sara ; Tenés, Anna ; Masas, Miriam ; Balmaña, Judith ; Diez, Orland
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of cancer research and clinical oncology, 2013-03, Vol.139 (3), p.529-532
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ArticlesPeer ReviewedFull Text
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5GT
Author / Creator:Duran-Lozano, Laura ; Montalban, Gemma ; Bonache, Sandra ; Moles-Fernández, Alejandro ; Tenés, Anna ; Castroviejo-Bermejo, Marta ; Carrasco, Estela
Publisher:Springer
Journal title:Breast cancer research and treatment, 2019-04, Vol.174 (2), p.543
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ArticlesPeer ReviewedFull Text
Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Masas, Miriam ; Tenés, Anna ; Yagüe, Carme ; Arcusa, Angels ; Llort, Gemma
Publisher:Boston: Boston : Springer US
Journal title:Breast cancer research and treatment, 2010-09, Vol.123 (2), p.587-590
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ArticlesPeer ReviewedFull Text
Identification of a new complex deleterious mutation in exon 18 of the gene in a hereditary male/female breast cancer family
Author / Creator:Diez, Orland ; Gutiérrez-Enríquez, Sara ; Masas, Miriam ; Tenés, Anna ; Yagüe, Carme ; Arcusa, Angels ; Llort, Gemma
Publisher:Springer Verlag
Journal title:Breast cancer research and treatment, 2010-03, Vol.123 (2), p.587-590
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ArticlesPeer ReviewedFull Text
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
Author / Creator:Oriola, Josep ; Díez, Orland ; Mora, Mireia ; Halperin, Irene ; Martínez, Sandra ; Masas, Miriam ; Tenes, Anna ; Bernal, Anna ; Duran, Rafael ; Orois, Aida
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-10, Vol.61 (10), p.939-942
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ArticlesPeer ReviewedFull Text
A Novel Intragenic Duplication in the IHDAC8/I Gene Underlying a Case of Cornelia de Lange Syndrome
Author / Creator:Lucia-Campos, Cristina ; Valenzuela, Irene ; Latorre-Pellicer, Ana ; Ros-Pardo, David ; Gil-Salvador, Marta ; Arnedo, María ; Puisac, Beatriz ; Castells, Neus ; Plaja, Alberto ; Tenes, Anna ; Cuscó, Ivon ; Trujillano, Laura ; Ramos, Feliciano J ; Tizzano, Eduardo F ; Gómez-Puertas, Paulino ; Pié, Juan
Publisher:MDPI AG
Journal title:Genes, 2022-08, Vol.13 (8)
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ArticlesPeer ReviewedFull Text
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Author / Creator:Lucia-Campos, Cristina ; Valenzuela, Irene ; Latorre-Pellicer, Ana ; Ros-Pardo, David ; Gil-Salvador, Marta ; Arnedo, María ; Puisac, Beatriz ; Castells, Neus ; Plaja, Alberto ; Tenes, Anna ; Cuscó, Ivon ; Trujillano, Laura ; Ramos, Feliciano J. ; Tizzano, Eduardo F. ; Gómez-Puertas, Paulino ; Pié, Juan
Publisher:Basel: MDPI AG
Journal title:Genes, 2022-08, Vol.13 (8), p.1413
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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

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Mutation analysis of the SHFM1 gene in breast/ovarian cancer families

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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5GT

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Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family

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Identification of a new complex deleterious mutation in exon 18 of the gene in a hereditary male/female breast cancer family

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Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer

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A Novel Intragenic Duplication in the IHDAC8/I Gene Underlying a Case of Cornelia de Lange Syndrome

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A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

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