Publications:

Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature

Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C

Publication Date: 2023-04-13

Variant appearance in text: VWF: C370Y

PubMed Link: 37055640

Variant Present in the following documents:

• EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18

View BVdb publication page

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica

Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés-Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2019-03

Variant appearance in text: VWF: 1109G>A; Cys370Tyr

PubMed Link: 30361419

Variant Present in the following documents:

• Main text
• 2018.203166.BORRAS_SUPPL.pdf
• 1040587.pdf

View BVdb publication page

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica

Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2017-12

Variant appearance in text: VWF: 1109G>A; Cys370Tyr

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

View BVdb publication page