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1

POT1 loss-of-function variants predispose to familial melanoma

Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia, Palmer, Jane M,

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 521 KB

english, 2014

2

Jdp2 downregulates Trp53 transcription to promote leukaemogenesis in the context of Trp53 heterozygosity

van der Weyden, L, Rust, A G, McIntyre, R E, Robles-Espinoza, C D, del Castillo Velasco-Herrera, M, Strogantsev, R, Ferguson-Smith, A C, McCarthy, S, Keane, T M, Arends, M J, Adams, D J

Journal:

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

3

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

Aoude, L. G., Pritchard, A. L., Robles-Espinoza, C. D., Wadt, K., Harland, M., Choi, J., Gartside, M., Quesada, V., Johansson, P., Palmer, J. M., Ramsay, A. J., Zhang, X., Jones, K., Symmons, J., Holl

Journal:

JNCI Journal of the National Cancer Institute

Year:

2014

Language:

english

File:

PDF, 928 KB

english, 2014

4

Telomere-Regulating Genes and the Telomere Interactome in Familial Cancers

Robles-Espinoza, C. D., del Castillo Velasco-Herrera, M., Hayward, N. K., Adams, D. J.

Journal:

Molecular Cancer Research

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

5

Cross-Species Analysis of Mouse and Human Cancer Genomes

Robles-Espinoza, C. D., Adams, D. J.

Journal:

Cold Spring Harbor Protocols

Year:

2014

Language:

english

File:

PDF, 414 KB

english, 2014

6

Cake: a bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes

Rashid, M., Robles-Espinoza, C. D., Rust, A. G., Adams, D. J.

Journal:

Year:

2013

Language:

english

File:

PDF, 87 KB

english, 2013

7

BRAF / NRAS wild-type melanoma, NF1 status and sensitivity to trametinib

Ranzani, Marco, Alifrangis, Constantine, Perna, Daniele, Dutton-Regester, Ken, Pritchard, Antonia, Wong, Kim, Rashid, Mamunur, Robles-Espinoza, Carla Daniela, Hayward, Nicholas K., McDermott, Ultan, G

Journal:

Pigment Cell & Melanoma Research

Year:

2015

Language:

english

File:

PDF, 6.48 MB

english, 2015

8

GermlineTERTpromoter mutations are rare in familial melanoma

Harland, Mark, Petljak, Mia, Robles-Espinoza, Carla Daniela, Ding, Zhihao, Gruis, Nelleke A., van Doorn, Remco, Pooley, Karen A., Dunning, Alison M., Aoude, Lauren G., Wadt, Karin A. W., Gerdes, Anne-

Journal:

Familial Cancer

Year:

2016

Language:

english

File:

PDF, 442 KB

english, 2016

9

Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5 +/− leukemia

van der Weyden, Louise, Giotopoulos, George, Wong, Kim, Rust, Alistair G., Robles-Espinoza, Carla Daniela, Osaki, Hikari, Huntly, Brian J., Adams, David J.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.37 MB

english, 2015

10

Germline MC1R status influences somatic mutation burden in melanoma

Robles-Espinoza, Carla Daniela, Roberts, Nicola D., Chen, Shuyang, Leacy, Finbarr P., Alexandrov, Ludmil B., Pornputtapong, Natapol, Halaban, Ruth, Krauthammer, Michael, Cui, Rutao, Timothy Bishop, D.

Journal:

Nature Communications

Year:

2016

Language:

english

File:

PDF, 538 KB

english, 2016

11

A population-based analysis of germline BAP1 mutations in melanoma

O’Shea, Sally J., Robles-Espinoza, Carla Daniela, McLellan, Lauren, Harrigan, Jeanine, Jacq, Xavier, Hewinson, James, Iyer, Vivek, Merchant, Will, Elliott, Faye, Harland, Mark, Timothy Bishop, D., New

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.00 MB

english, 2017

12

Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations

Brammeld, Jonathan S., Petljak, Mia, Martincorena, Inigo, Williams, Steven P., Alonso, Luz Garcia, Dalmases, Alba, Bellosillo, Beatriz, Robles-Espinoza, Carla Daniela, Price, Stacey, Barthorpe, Syd, T

Journal:

Genome Research

Year:

2017

Language:

english

File:

PDF, 1.15 MB

english, 2017

13

Melanoma: a global perspective

Ossio, Raul, Roldán-Marín, Rodrigo, Martínez-Said, Héctor, Adams, David J., Robles-Espinoza, Carla Daniela

Journal:

Nature Reviews Cancer

Year:

2017

Language:

english

File:

PDF, 113 KB

english, 2017

14

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing

Artomov, Mykyta, Stratigos, Alexander J., Kim, Ivana, Kumar, Raj, Lauss, Martin, Reddy, Bobby Y., Miao, Benchun, Daniela Robles-Espinoza, Carla, Sankar, Aravind, Njauw, Ching-Ni, Shannon, Kristen, Gra

Journal:

JNCI Journal of the National Cancer Institute

Year:

2017

Language:

english

File:

PDF, 1.56 MB

english, 2017

15

A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice

McIntyre, Rebecca E., Nicod, Jérôme, Robles-Espinoza, Carla Daniela, Maciejowski, John, Cai, Na, Hill, Jennifer, Verstraten, Ruth, Iyer, Vivek, Rust, Alistair G., Balmus, Gabriel, Mott, Richard, Flint

Journal:

G3 Genes|Genome|Genetics

Year:

2016

Language:

english

File:

PDF, 1.66 MB

english, 2016

16

RSAT 2018: regulatory sequence analysis tools 20th anniversary

Nguyen, Nga Thi Thuy, Contreras-Moreira, Bruno, Castro-Mondragon, Jaime A, Santana-Garcia, Walter, Ossio, Raul, Robles-Espinoza, Carla Daniela, Bahin, Mathieu, Collombet, Samuel, Vincens, Pierre, Thie

Journal:

Nucleic Acids Research

Year:

2018

Language:

english

File:

PDF, 740 KB

english, 2018

17

Beating tumour drug resistance: “Lamarckian” induction in the spotlight

Robles-Espinoza, Carla Daniela

Journal:

Pigment Cell & Melanoma Research

Year:

2018

Language:

english

File:

PDF, 524 KB

english, 2018

18

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

Potrony, M., Puig-Butille, J.A., Ribera-Sola, M., Iyer, V., Robles-Espinoza, C.D., Aguilera, P., Carrera, C., Malvehy, J., Badenas, C., Landi, M.T., Adams, D.J., Puig, S.

Journal:

British Journal of Dermatology

Year:

2018

Language:

english

File:

PDF, 838 KB

english, 2018

19

Melanoma subtypes: Genomic profiles, prognostic molecular markers and therapeutic possibilities

Rabbie, Roy, Ferguson, Peter, Molina-Aguilar, Christian, Adams, David J., Robles-Espinoza, Carla Daniela

Journal:

The Journal of Pathology

Year:

2018

Language:

english

File:

PDF, 5.01 MB

english, 2018

20

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

Wong, Kim, Robles-Espinoza, Carla Daniela, Rodriguez, David, Rudat, Saskia S., Puig, Susana, Potrony, Miriam, Wong, Chi C., Hewinson, James, Aguilera, Paula, Puig-Butille, Joan Anton, Bressac-de Paill

Journal:

JAMA Dermatology

Year:

2018

Language:

english

File:

PDF, 633 KB

english, 2018

21

BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma

Herbert, Katharine, Binet, Romuald, Lambert, Jean-Philippe, Louphrasitthiphol, Pakavarin, Kalkavan, Halime, Sesma-Sanz, Laura, Robles-Espinoza, Carla Daniela, Sarkar, Sovan, Suer, Eda, Andrews, Sarah,

Journal:

Genes & Development

Year:

2019

File:

PDF, 8.70 MB

2019

22

Health-Related Quality of Life and Satisfaction With Health Care: Relation to Clinical Stage in Mexican Patients With Multiple Myeloma

Balderas-Peña, Luz-Ma-Adriana, Miranda-Ruvalcaba, Claudia, Robles-Espinoza, Andrea Isabel, Sat-Muñoz, Daniel, Ruiz, Miguel Garcés, García-Luna, Eduardo, Nava-Zavala, Arnulfo Hernan, Rubio-Jurado, Benj

Journal:

Year:

2019

Language:

english

File:

PDF, 186 KB

english, 2019

23

BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma

Herbert, Katharine, Binet, Romuald, Lambert, Jean-Philippe, Louphrasitthiphol, Pakavarin, Kalkavan, Halime, Sesma-Sanz, Laura, Robles-Espinoza, Carla Daniela, Sarkar, Sovan, Suer, Eda, Andrews, Sarah,

Journal:

Genes & Development

Year:

2019

Language:

english

File:

PDF, 8.70 MB

english, 2019

24

VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects

Ossio, Raul, Garcia-Salinas, O Isaac, Anaya-Mancilla, Diego Said, Garcia-Sotelo, Jair S, Aguilar, Luis A, Adams, David J, Robles-Espinoza, Carla Daniela, Hancock, John

Journal:

Year:

2019

Language:

english

File:

PDF, 219 KB

english, 2019

25

POT1 and TERT promoter molecular screening in Spanish melanoma families

Potrony, M., Puig-Butille, J.A., Ribera-Sola, M., Iyer, V., Robles-Espinoza, C.D., Aguilera, P., Carrera, C., Malvehy, J., Badenas, C., Landi, M.T., Adams, D.J., Puig, S.

Journal:

British Journal of Dermatology

Year:

2019

Language:

english

File:

PDF, 25 KB

english, 2019

26

POT1 and TERT promoter molecular screening in Spanish melanoma families

Potrony, M., Puig-Butille, J.A., Ribera-Sola, M., Iyer, V., Robles-Espinoza, C.D., Aguilera, P., Carrera, C., Malvehy, J., Badenas, C., Landi, M.T., Adams, D.J., Puig, S.

Journal:

British Journal of Dermatology

Year:

2019

File:

PDF, 25 KB

2019

27

Respiratory syncytial virus A genotype classification based on systematic intergenotypic and intragenotypic sequence analysis

Muñoz-Escalante, Juan Carlos, Comas-García, Andreu, Bernal-Silva, Sofía, Robles-Espinoza, Carla Daniela, Gómez-Leal, Guillermo, Noyola, Daniel E.

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 3.24 MB

english, 2019

28

Respiratory syncytial virus A genotype classification based on systematic intergenotypic and intragenotypic sequence analysis

Muñoz-Escalante, Juan Carlos, Comas-García, Andreu, Bernal-Silva, Sofía, Robles-Espinoza, Carla Daniela, Gómez-Leal, Guillermo, Noyola, Daniel E.

Journal:

Scientific Reports

Year:

2019

File:

PDF, 3.24 MB

2019

29

Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies

Ornelas-Arana, Martha L., PÃ©rez-Garcia, Guillermo, Robles-Espinoza, Carla D., Rangel-Sosa, Martha M., Castaneda-Garcia, Carolina, JuÃ¡rez-VÃ¡zquez, Clara I., LÃ³pez-PÃ©rez, Leopoldo G., PÃ©rez-Ornela

Journal:

Cytogenetic and Genome Research

Year:

2020

File:

PDF, 818 KB

2020

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