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Hire Dr. Ezequiel M.
Spain
USD 50 /hr
Expert Bioinformatician with 20 years of experience in all types of NGS data
Profile Summary
Subject Matter Expertise
Services
Writing
Translation
Consulting
Scientific and Technical Consulting
Data & AI
Statistical Analysis,
Data Visualization,
Big Data Analytics,
Data Cleaning
Product Development
Concept Development,
Prototyping
Work Experience
Consultant Bioinformatician
University of Cambridge
October 2021 - Present 
Consultant Bioinformatician
University of Cambridge
October 2021 - Present
Senior Bioinformatician
CIC bioGUNE
November 2021 - December 2024
SMCL Lead Bioinformatician
Univeristy of Cambridge
February 2018 - October 2021
Senior Bioinformatician
University of Cambridge
February 2018 - October 2021
CMDL Interim Director
University of Cambridge
April 2018 - January 2019
Reseacrh Associate
University of Cambridge
September 2014 - February 2018
Postdoctoral Reasercher
Instituto de Parasitología y Biomedicina López-Neyra
February 2011 - August 2014
Education
PhD
Instituto de Parasitología y Biomedicina López-Neyra
September 2006 - February 2011
Biology
Universidad de Granada
September 2000 - December 2004
Certifications
- Certification details not provided.
Publications
JOURNAL ARTICLE
Cristina Martin-Martin, Beatriz Suarez-Alvarez, Monika González, Irina B. Torres, Oriol Bestard, José E. Martín, Gwendolyn Barceló-Coblijn, Francesc Moreso, Ana M. Aransay, Carlos Lopez-Larrea, et al. (2024). Exploring kidney allograft rejection: A proof-of-concept study using spatial transcriptomics . American Journal of Transplantation.
Zijian Fang, Giuditta Corbizi Fattori, Thomas McKerrell, Rebecca H. Boucher, Aimee Jackson, Rachel S. Fletcher, Dorian Forte, Jose-Ezequiel Martin, Sonia Fox, James Roberts, et al. (2023). Tamoxifen for the treatment of myeloproliferative neoplasms: A Phase II clinical trial and exploratory analysis . Nature Communications.
Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, et al.(2023). Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders . Human molecular genetics.
Victoria Mulcahy, Evaggelia Liaskou, Jose-Ezequiel Martin, Prasanti Kotagiri, Jonathan Badrock, Rebecca L. Jones, Simon M Rushbrook, Stephen D. Ryder, Douglas Thorburn, Simon D. Taylor-Robinson, et al. (2023). Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells . Hepatology Communications.
Mulcahy V, Liaskou E, Martin JE, Kotagiri P, Badrock J, Jones RL, Rushbrook SM, Ryder SD, Thorburn D, Taylor-Robinson SD, et al.(2023). Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells . Hepatology communications.
Van Egeren D, Kohli K, Warner JL, Bedard PL, Riely G, Lepisto E, Schrag D, LeNoue-Newton M, Catalano P, Kehl KL, et al.(2022). Genomic analysis of early-stage lung cancer reveals a role for TP53 mutations in distant metastasis . Scientific reports.
Stewart GD, Welsh SJ, Ursprung S, Gallagher FA, Jones JO, Shields J, Smith CG, Mitchell TJ, Warren AY, Bex A, et al.(2022). A Phase II study of neoadjuvant axitinib for reducing the extent of venous tumour thrombus in clear cell renal cell cancer with venous invasion (NAXIVA) . British journal of cancer.
Lee S, Ochoa E, Barwick K, Cif L, Rodger F, Docquier F, Pérez-Dueñas B, Clark G, Martin E, Banka S, et al.(2022). Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders . Epigenomics.
Andreou A, Yngvadottir B, Bassaganyas L, Clarke G, Martin E, Whitworth J, Cornish AJ, Genomics England Research Consortium, Houlston RS, Rich P, et al.(2022). Elongin C (ELOC/TCEB1) associated von Hippel-Lindau disease . Human molecular genetics.
Tamborero D, Dienstmann R, Rachid MH, Boekel J, Lopez-Fernandez A, Jonsson M, Razzak A, Braña I, De Petris L, Yachnin J, et al.(2022). The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology . Nature cancer.
Winzeler B, Tufton N, S Lim E, Challis BG, Park SM, Izatt L, Carroll PV, Velusamy A, Hulse T, Whitelaw BC, et al.(2021). Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort . Clinical endocrinology.
Ochoa E, Lee S, Lan-Leung B, Dias RP, Ong KK, Radley JA, Pérez de Nanclares G, Martinez R, Clark G, Martin E, et al.(2021). ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance . Genetics in medicine : official journal of the American College of Medical Genetics.
Cheah SK, Bisambar CR, Pitfield D, Giger O, Hoopen RT, Martin JE, Clark GR, Park SM, Parkinson C, Challis BG, et al.(2021). Breast cancer in multiple endocrine neoplasia type 1 (MEN1) . Endocrinology, diabetes & metabolism case reports.
Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P, NIHR BioResource, et al.(2021). Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2 . European journal of human genetics : EJHG.
Ezequiel Martin, Neil V Morgan, Bryndis Yngvadottir, Mary O’Driscoll, Graeme R Clark, Diana Walsh, Louise Tee, Evan Reid, Hannah L Titheradge, Eamonn R Maher(2021). Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL . Brain Communications. 3. (1). Oxford University Press ({OUP})
Caeser R, Walker I, Gao J, Shah N, Rasso-Barnett L, Anand S, Martin JE, Hodson DJ(2021). Acquired CARD11 mutation promotes BCR independence in Diffuse Large B Cell Lymphoma . JCO precision oncology.
(2020). Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters . European journal of human genetics : EJHG.
Tamborero D, Dienstmann R, Rachid MH, Boekel J, Baird R, Braña I, De Petris L, Yachnin J, Massard C, Opdam FL, et al.(2020). Support systems to guide clinical decision-making in precision oncology: The Cancer Core Europe Molecular Tumor Board Portal . Nature medicine.
Casey RT, Ten Hoopen R, Ochoa E, Challis BG, Whitworth J, Smith PS, Martin JE, Clark GR, Rodger F, Maranian M, et al.(2019). SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice . Scientific reports.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, et al.(2018). Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes . American journal of human genetics.
Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, et al.(2017). Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review . The Journal of clinical endocrinology and metabolism.
López-Isac E, Martín JE, Assassi S, Simeón CP, Carreira P, Ortego-Centeno N, Freire M, Beltrán E, Narváez J, Alegre-Sancho JJ, et al.(2016). Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies . Arthritis & rheumatology (Hoboken, N.J.).
Carmona, F.D., Mackie, S.L., Martín, J.-E., Taylor, J.C., Vaglio, A., Eyre, S., Bossini-Castillo, L., Castañeda, S., Cid, M.C., Hernández-Rodríguez, J., et al.(2015). A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility . American Journal of Human Genetics. 96. (4). p. 565-580.
Ochoa, E., Martin, J.-E., Assassi, S., Beretta, L., Carreira, P., Guillén, A., Simeón, C.P., Koumakis, E., Dieude, P., Allanore, Y., et al.(2015). Confirmation of CCR6 as a risk factor for anti-topoisomerase I antibodies in systemic sclerosis . Clinical and Experimental Rheumatology. 33. p. 31-35.
Kottyan LC, Zoller EE, Bene J, Lu X, Kelly JA, Rupert AM, Lessard CJ, Vaughn SE, Marion M, Weirauch MT, et al.(2014). The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share . Human molecular genetics.
Mayes, M.D., Bossini-Castillo, L., Gorlova, O., Martin, J.E., Zhou, X., Chen, W.V., Assassi, S., Ying, J., Tan, F.K., Arnett, F.C., et al.(2014). Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis . American Journal of Human Genetics. 94. (1). p. 47-61.
Martin, J.-E., Assassi, S., Diaz-Gallo, L.-M., Broen, J.C., Simeon, C.P., Castellvi, I., Vicente-Rabaneda, E., Fonollosa, V., Ortego-Centeno, N., González-Gay, M.A., et al.(2013). A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci . Human Molecular Genetics. 22. (19). p. 4021-4029.
Bossini-Castillo, L., Martin, J.E., Broen, J., Simeon, C.P., Beretta, L., Gorlova, O.Y., Vonk, M.C., Ortego-Centeno, N., Espinosa, G., Carreira, P., et al.(2013). Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study . Annals of the Rheumatic Diseases. 72. (4). p. 602-607.
Carmona, F.D., Martin, J.-E., Beretta, L., Simeón, C.P., Carreira, P.E., Callejas, J.L., Fernández-Castro, M., Sáez-Comet, L., Beltrán, E., Camps, M.T., et al.(2013). The Systemic Lupus Erythematosus IRF5 Risk Haplotype Is Associated with Systemic Sclerosis . PLoS ONE. 8. (1).
Teruel M, Martin JE, Gómez-García M, Cardeña C, Rodrigo L, Nieto A, Alcain G, Cueto I, López-Nevot MA, Martin J(2012). Lack of association of ACP1 gene with inflammatory bowel disease: a case-control study . Tissue antigens.
Bossini-Castillo, L., Martin, J.-E., Broen, J., Gorlova, O., Simeón, C.P., Beretta, L., Vonk, M.C., Callejas, J.L., Castellví, I., Carreira, P., et al.(2012). A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations . Human Molecular Genetics. 21. (4). p. 926-933.
Mitgutsch, C., Richardson, M.K., Jiménez, R., Martin, J.E., Kondrashov, P., De Bakker, M.A.G., Sánchez-Villagra, M.R.(2012). Circumventing the polydactyly 'constraint': The mole's 'thumb' . Biology Letters. 8. (1). p. 74-77.
Martín, J.E., Bossini-Castillo, L., Martín, J.(2012). Unraveling the genetic component of systemic sclerosis . Human Genetics. 131. (7). p. 1023-1037.
Martin, J.-E., Broen, J.C., David Carmona, F., Teruel, M., Simeon, C.P., Vonk, M.C., Slot, R.V., Rodriguez-Rodriguez, L., Vicente, E., Fonollosa, V., et al.(2012). Identification of CSK as a systemic sclerosis genetic risk factor through genome wide association study follow-up . Human Molecular Genetics. 21. (12). p. 2825-2835.
Teruel, M., Martin, J.-E., Ortego-Centeno, N., Jiménez-Alonso, J., Sánchez-Román, J., de Ramón, E., Gonzalez-Escribano, M.F., Pons-Estel, B.A., D'Alfonso, S., Sebastiani, G.D., et al.(2012). Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus . Human Immunology. 73. (1). p. 107-110.
Teruel, M., Martin, J.-E., Ortego-Centeno, N., Jiménez Alonso, J., Sánchez-Román, J., de Ramón, E., Francisca Gonzalez-Escribano, M., Pons-Estel, B.A., D'Alfonso, S., Sebastiani, G.D., et al.(2012). Erratum to "Novel association of acid phosphatase locus 1 C allele with systemic lupus erythematosus" [Human Immunology 73 (2012) 107-110] . Human Immunology. 73. (9).
Martin JE, Carmona FD, Broen JC, Simeón CP, Vonk MC, Carreira P, Ríos-Fernández R, Espinosa G, Vicente-Rabaneda E, Tolosa C, et al.(2011). The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis . Genes and immunity.
Teruel, M., Martin, J.-E., González-Juanatey, C., López-Mejias, R., Miranda-Filloy, J.A., Blanco, R., Balsa, A., Pascual-Salcedo, D., Rodriguez-Rodriguez, L., Fernández-Gutierrez, B., et al.(2011). Association of acid phosphatase locus 1*;C allele with the risk of cardiovascular events in rheumatoid arthritis patients . Arthritis Research and Therapy. 13. (4).
Radstake, T.R.D.J., Gorlova, O., Rueda, B., Martin, J.-E., Alizadeh, B.Z., Palomino-Morales, R., Coenen, M.J., Vonk, M.C., Voskuyl, A.E., Schuerwegh, A.J., et al.(2011). Erratum: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus (Nat. Genet. (2010) 42 (426-429) . Nature Genetics. 43. (5).
Martín, J.-E., Alizadeh, B.Z., González-Gay, M.A., Balsa, A., Pascual-Salcedo, D., González-Escribano, M.F., Rodriguez-Rodriguez, L., Fernández-Gutiérrez, B., Raya, E., Coenen, M.J.H., et al.(2011). Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region . Journal of Rheumatology. 38. (11). p. 2290-2296.
Gorlova, O., Martin, J.-E., Rueda, B., Koeleman, B.P.C., Ying, J., Teruel, M., Diaz-Gallo, L.-M., Broen, J.C., Vonk, M.C., Simeon, C.P., et al.(2011). Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy . PLoS Genetics. 7. (7).
Perdigones N, Martín E, Robledo G, Lamas JR, Taxonera C, Díaz-Rubio M, de la Concha EG, López-Nevot MA, García A, Gómez-García M, et al.(2010). Study of chromosomal region 5p13.1 in Crohn's disease, ulcerative colitis, and rheumatoid arthritis . Human immunology.
Martín, J.-E., Alizadeh, B.Z., González-Gay, M.A., Balsa, A., Pascual-Salcedo, D., Fernández-Gutiérrez, B., Raya, E., Franke, L., Van'T Slot, R., Coenen, M.J.H., et al.(2010). Identification of the oxidative stress-related gene MSRA as a rheumatoid arthritis susceptibility locus by genome-wide pathway analysis . Arthritis and Rheumatism. 62. (11). p. 3183-3190.
Radstake, T.R.D.J., Gorlova, O., Rueda, B., Martin, J.-E., Alizadeh, B.Z., Palomino-Morales, R., Coenen, M.J., Vonk, M.C., Voskuyl, A.E., Schuerwegh, A.J., et al.(2010). Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus . Nature Genetics. 42. (5). p. 426-429.
Bossini-Castillo, L., Martín, J.-E., Díaz-Gallo, L.M., Rueda, B., Martín, J.(2010). Genetics in scleroderma | Genética de la esclerodermia . Reumatologia Clinica. 6. (SUPPL. 2). p. 12-15.
Docampo, E., Rabionet, R., Riveira-Muñoz, E., Escaramís, G., Julià, A., Marsal, S., Martín, J.E., González-Gay, M.A., Balsa, A., Raya, E., et al.(2010). Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis . Arthritis and Rheumatism. 62. (5). p. 1246-1251.
Gourh P, Agarwal SK, Martin E, Divecha D, Rueda B, Bunting H, Assassi S, Paz G, Shete S, McNearney T, et al.(2009). Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations . Journal of autoimmunity.
Carmona, F.D., Lupiáñez, D.G., Martín, J.-E., Burgos, M., Jiménez, R., Zurita, F.(2009). The spatio-temporal pattern of testis organogenesis in mammals - Insights from the mole . International Journal of Developmental Biology. 53. (7). p. 1035-1044.
PREPRINT
et al., Zijian Fang, Giuditta Fattori, Thomas McKerrell, Rebecca Boucher, Aimee Jackson, Rachel Fletcher, Dorian Forte, Jose-Ezequiel Martin, Sonia Fox, James Roberts (2023). Tamoxifen reduces mitochondrial respiration, oncogenic signaling and mutant allele burden in a myeloproliferative neoplasm subset .
BOOK
Mitgutsch, C., Richardson, M.K., De Bakker, M.A.G., Jiménez, R., Martín, J.E., Kondrashov, P., Sánchez-Villagra, M.R.(2009). A molecular-morphological study of a peculiar limb morphology: The development and evolution of the mole’s ‘thumb’ . From Clone to Bone: The Synergy of Morphological and Molecular Tools in Palaeobiology. p. 301-327.
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