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Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
Published in:
2019
By:
- 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 Paillerets, Brigitte;
- Zattara, Hélène;
- van der Weyden, Louise;
- Fletcher, Christopher D. M.;
- Brenn, Thomas;
- Arends, Mark J.;
- Quesada, Víctor;
- Newton-Bishop, Julia A.;
- Lopez-Otin, Carlos;
- Bishop, D. Timothy
Publication type:
journal article
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Published in:
Molecular Syndromology, 2021, v. 12, n. 4, p. 250, doi. 10.1159/000515081
By:
- Flores-Contreras, Elda Ariadna;
- García-Ortiz, José Elías;
- Robles-Espinoza, Carla Daniela;
- Zomosa-Signoret, Viviana;
- Becerra-Solano, Luis Eduardo;
- Vidaltamayo, Román;
- Castaneda-García, Carolina;
- Esparza-García, Eduardo;
- Molina-Aguilar, Christian;
- Hernández-Orozco, Angélica Alejandra;
- Córdova-Fletes, Carlos
Publication type:
Article
Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.
Published in:
Journal of Pathology, 2023, v. 259, n. 1, p. 56, doi. 10.1002/path.6019
By:
- Birkeälv, Sofia;
- Harland, Mark;
- Matsuyama, Larissa Satiko Alcantara Sekimoto;
- Rashid, Mamun;
- Mehta, Ishan;
- Laye, Jonathan P;
- Haase, Kerstin;
- Mell, Tracey;
- Iyer, Vivek;
- Robles‐Espinoza, Carla Daniela;
- McDermott, Ultan;
- van Loo, Peter;
- Kuijjer, Marieke L;
- Possik, Patricia A;
- Maria Engler, Silvya Stuchi;
- Bishop, D Timothy;
- Newton‐Bishop, Julia;
- Adams, David J
Publication type:
Article
Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11116, doi. 10.3390/ijms231911116
By:
- Cerrato-Izaguirre, Dennis;
- Chirino, Yolanda I.;
- Prada, Diddier;
- Quezada-Maldonado, Ericka Marel;
- Herrera, Luis A;
- Hernández-Guerrero, Angélica;
- Alonso-Larraga, Juan Octavio;
- Herrera-Goepfert, Roberto;
- Oñate-Ocaña, Luis F.;
- Cantú-de-León, David;
- Meneses-García, Abelardo;
- Basurto-Lozada, Patricia;
- Robles-Espinoza, Carla Daniela;
- Camacho, Javier;
- García-Cuellar, Claudia M.;
- Sánchez-Pérez, Yesennia
Publication type:
Article
RSAT 2018: regulatory sequence analysis tools 20th anniversary.
Published in:
Nucleic Acids Research, 2018, v. 46, n. W1, p. W209, doi. 10.1093/nar/gky317
By:
- 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;
- Thieffry, Denis
Publication type:
Article
Virtual meetings promise to eliminate geographical and administrative barriers and increase accessibility, diversity and inclusivity.
Published in:
Nature Biotechnology, 2022, v. 40, n. 1, p. 133, doi. 10.1038/s41587-021-01176-z
By:
- Wu, Juncheng;
- Rajesh, Anushka;
- Huang, Yu-Ning;
- Chhugani, Karishma;
- Acharya, Rajesh;
- Peng, Kerui;
- Johnson, Ruth D.;
- Fiscutean, Andrada;
- Robles-Espinoza, Carla Daniela;
- De La Vega, Francisco M.;
- Bao, Riyue;
- Mangul, Serghei
Publication type:
Article
POT1 loss-of-function variants predispose to familial melanoma.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 478, doi. 10.1038/ng.2947
By:
- 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;
- Symmons, Judith;
- Johansson, Peter;
- Stark, Mitchell S;
- Gartside, Michael G;
- Snowden, Helen;
- Montgomery, Grant W;
- Martin, Nicholas G;
- Liu, Jimmy Z;
- Choi, Jiyeon
Publication type:
Article
Variant ranking pipeline for complex familial disorders.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64169-3
By:
- Ralli, Sneha;
- Vira, Tariq;
- Robles-Espinoza, Carla Daniela;
- Adams, David J.;
- Brooks-Wilson, Angela R.
Publication type:
Article
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09979-0
By:
- Rashid, Mamunur;
- van der Horst, Michiel;
- Mentzel, Thomas;
- Butera, Francesca;
- Ferreira, Ingrid;
- Pance, Alena;
- Rütten, Arno;
- Luzar, Bostjan;
- Marusic, Zlatko;
- de Saint Aubain, Nicolas;
- Ko, Jennifer S.;
- Billings, Steven D.;
- Chen, Sofia;
- Abi Daoud, Marie;
- Hewinson, James;
- Louzada, Sandra;
- Harms, Paul W.;
- Cerretelli, Guia;
- Robles-Espinoza, Carla Daniela;
- Patel, Rajiv M.
Publication type:
Article
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08081-1
By:
- Wong, Kim;
- van der Weyden, Louise;
- Schott, Courtney R.;
- Foote, Alastair;
- Constantino-Casas, Fernando;
- Smith, Sionagh;
- Dobson, Jane M.;
- Murchison, Elizabeth P.;
- Wu, Hong;
- Yeh, Iwei;
- Fullen, Douglas R.;
- Joseph, Nancy;
- Bastian, Boris C.;
- Patel, Rajiv M.;
- Martincorena, Inigo;
- Robles-Espinoza, Carla Daniela;
- Iyer, Vivek;
- Kuijjer, Marieke L.;
- Arends, Mark J.;
- Brenn, Thomas
Publication type:
Article
Respiratory syncytial virus A genotype classification based on systematic intergenotypic and intragenotypic sequence analysis.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-56552-2
By:
- Muñoz-Escalante, Juan Carlos;
- Comas-García, Andreu;
- Bernal-Silva, Sofía;
- Robles-Espinoza, Carla Daniela;
- Gómez-Leal, Guillermo;
- Noyola, Daniel E.
Publication type:
Article
A Genome-Wide Association Study for Regulators of Micronucleus Formation in Mice.
Published in:
G3: Genes | Genomes | Genetics, 2016, v. 6, n. 8, p. 2343, doi. 10.1534/g3.116.030767
By:
- McIntyre, Rebecca E.;
- Nicod, Jérôme;
- Robles-Espinoza, Carla Daniela;
- Maciejowski, John;
- Na Cai;
- Hill, Jennifer;
- Verstraten, Ruth;
- Iyer, Vivek;
- Rust, Alistair G.;
- Balmus, Gabriel;
- Mott, Richard;
- Flint, Jonathan;
- Adams, David J.
Publication type:
Article
Germline MC1R status influences somatic mutation burden in melanoma.
Published in:
Nature Communications, 2016, v. 7, n. 7, p. 12064, doi. 10.1038/ncomms12064
By:
- 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.;
- Adams, David J.
Publication type:
Article
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 17, p. 2845, doi. 10.1093/hmg/ddac074
By:
- Castaneda-Garcia, Carolina;
- Iyer, Vivek;
- Nsengimana, Jérémie;
- Trower, Adam;
- Droop, Alastair;
- Brown, Kevin M;
- Choi, Jiyeon;
- Zhang, Tongwu;
- Harland, Mark;
- Newton-Bishop, Julia A;
- Bishop, D Timothy;
- Adams, David J;
- Iles, Mark M;
- Robles-Espinoza, Carla Daniela
Publication type:
Article
A population-based analysis of germline BAP1 mutations in melanoma.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 4, p. 717, doi. 10.1093/hmg/ddw403
By:
- O'Shea, Sally J.;
- Robles-Espinoza, Carla Daniela;
- McLellan, Lauren;
- Harrigan, Jeanine;
- Jacq, Xavier;
- Hewinson, James;
- Iyer, Vivek;
- Merchant, Will;
- Elliott, Faye;
- Harland, Mark;
- Bishop, D. Timothy;
- Newton-Bishop, Julia A.;
- Adams, David J.
Publication type:
Article
More than just acral melanoma: the controversies of defining the disease.
Published in:
Journal of Pathology: Clinical Research, 2021, v. 7, n. 6, p. 531, doi. 10.1002/cjp2.233
By:
- Bernardes, Sara S;
- Ferreira, Ingrid;
- Elder, David E;
- Nobre, Aretha B;
- Martínez‐Said, Héctor;
- Adams, David J;
- Robles‐Espinoza, Carla Daniela;
- Possik, Patricia A
Publication type:
Article
An Overview of Strategies for Detecting Genotype-Phenotype Associations Across Ancestrally Diverse Populations.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.703901
By:
- Simonin-Wilmer, Irving;
- Orozco-del-Pino, Pedro;
- Bishop, D. Timothy;
- Iles, Mark M.;
- Robles-Espinoza, Carla Daniela
Publication type:
Article
Senescent no more.
Published in:
Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 7, doi. 10.1111/pcmr.12939
By:
- Arnheiter, Heinz;
- Robles‐Espinoza, Carla Daniela
Publication type:
Article
Acral lentiginous melanoma: Basic facts, biological characteristics and research perspectives of an understudied disease.
Published in:
Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 59, doi. 10.1111/pcmr.12885
By:
- Basurto‐Lozada, Patricia;
- Molina‐Aguilar, Christian;
- Castaneda‐Garcia, Carolina;
- Vázquez‐Cruz, Martha Estefania;
- Garcia‐Salinas, Omar Isaac;
- Álvarez‐Cano, Alethia;
- Martínez‐Said, Héctor;
- Roldán‐Marín, Rodrigo;
- Adams, David J.;
- Possik, Patricia A.;
- Robles‐Espinoza, Carla Daniela
Publication type:
Article
Melanoma predisposition—A limited role for germline BRCA1 and BRCA2 variants.
Published in:
Pigment Cell & Melanoma Research, 2020, v. 33, n. 1, p. 6, doi. 10.1111/pcmr.12833
By:
- Adams, David J.;
- Bishop, David Timothy;
- Robles‐Espinoza, Carla Daniela
Publication type:
Article
Beating tumour drug resistance: "Lamarckian" induction in the spotlight.
Published in:
Pigment Cell & Melanoma Research, 2019, v. 32, n. 1, p. 6, doi. 10.1111/pcmr.12744
By:
- Robles‐Espinoza, Carla Daniela
Publication type:
Article
Genomic analysis and clinical management of adolescent cutaneous melanoma.
Published in:
Pigment Cell & Melanoma Research, 2017, v. 30, n. 3, p. 307, doi. 10.1111/pcmr.12574
By:
- Rabbie, Roy;
- Rashid, Mamunur;
- Arance, Ana M.;
- Sánchez, Marcelo;
- Tell ‐ Marti, Gemma;
- Potrony, Miriam;
- Conill, Carles;
- Doorn, Remco;
- Dentro, Stefan;
- Gruis, Nelleke A.;
- Corrie, Pippa;
- Iyer, Vivek;
- Robles ‐ Espinoza, Carla Daniela;
- Puig ‐ Butille, Joan A.;
- Puig, Susana;
- Adams, David J.
Publication type:
Article
BRAF/ NRAS wild-type melanoma, NF1 status and sensitivity to trametinib.
Published in:
Pigment Cell & Melanoma Research, 2015, v. 28, n. 1, p. 117, doi. 10.1111/pcmr.12316
By:
- Ranzani, Marco;
- Alifrangis, Constantine;
- Perna, Daniele;
- Dutton ‐ Regester, Ken;
- Pritchard, Antonia;
- Wong, Kim;
- Rashid, Mamunur;
- Robles ‐ Espinoza, Carla Daniela;
- Hayward, Nicholas K.;
- McDermott, Ultan;
- Garnett, Mathew;
- Adams, David J.
Publication type:
Article
Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5<sup>+/-</sup> leukemia.
Published in:
BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1586-1
By:
- van der Weyden, Louise;
- Giotopoulos, George;
- Kim Wong;
- Rust, Alistair G.;
- Robles-Espinoza, Carla Daniela;
- Hikari Osaki;
- Huntly, Brian J.;
- Adams, David J.
Publication type:
Article
Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5(+/-) leukemia.
Published in:
2015
By:
- van der Weyden, Louise;
- Giotopoulos, George;
- Wong, Kim;
- Rust, Alistair G;
- Robles-Espinoza, Carla Daniela;
- Osaki, Hikari;
- Huntly, Brian J;
- Adams, David J
Publication type:
journal article
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.
Published in:
Bioinformatics, 2019, v. 35, n. 22, p. 4803, doi. 10.1093/bioinformatics/btz458
By:
- Ossio, Raul;
- Garcia-Salinas, O Isaac;
- Anaya-Mancilla, Diego Said;
- Garcia-Sotelo, Jair S;
- Aguilar, Luis A;
- Adams, David J;
- Robles-Espinoza, Carla Daniela
Publication type:
Article
Cake: a bioinformatics pipeline for the integrated analysis of somatic variants in cancer genomes.
Published in:
Bioinformatics, 2013, v. 29, n. 17, p. 2208, doi. 10.1093/bioinformatics/btt371
By:
- Rashid, Mamunur;
- Robles-Espinoza, Carla Daniela;
- Rust, Alistair G.;
- Adams, David J.
Publication type:
Article
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Published in:
2017
By:
- 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;
- Gragoudas, Evangelos S;
- Marie Lane, Anne;
- Iyer, Vivek;
- Newton-Bishop, Julia A;
- Timothy Bishop, D;
- Holland, Elizabeth A;
- Mann, Graham J;
- Singh, Tarjinder;
- Daly, Mark J
Publication type:
journal article
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma.
Published in:
JNCI: Journal of the National Cancer Institute, 2015, v. 107, n. 2, p. 1, doi. 10.1093/jnci/dju408
By:
- Aoude, Lauren G.;
- Pritchard, Antonia L.;
- Robles-Espinoza, Carla Daniela;
- Wadt, Karin;
- Harland, Mark;
- Choi, Jiyeon;
- Gartside, Michael;
- Quesada, Víctor;
- Johansson, Peter;
- Palmer, Jane M.;
- Ramsay, Andrew J.;
- Zhang, Xijun;
- Jones, Kristine;
- Symmons, Judith;
- Holland, Elizabeth A.;
- Schmid, Helen;
- Bonazzi, Vanessa;
- Woods, Susan;
- Dutton-Regester, Ken;
- Stark, Mitchell S.
Publication type:
Article
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
Published in:
2015
By:
- Aoude, Lauren G;
- Pritchard, Antonia L;
- Robles-Espinoza, Carla Daniela;
- Wadt, Karin;
- Harland, Mark;
- Choi, Jiyeon;
- Gartside, Michael;
- Quesada, Víctor;
- Johansson, Peter;
- Palmer, Jane M;
- Ramsay, Andrew J;
- Zhang, Xijun;
- Jones, Kristine;
- Symmons, Judith;
- Holland, Elizabeth A;
- Schmid, Helen;
- Bonazzi, Vanessa;
- Woods, Susan;
- Dutton-Regester, Ken;
- Stark, Mitchell S
Publication type:
journal article

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