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Angela del Pozo
Angela del Pozo
Head of Bioinformatics Section. INGEMM - Hospital Universitario La Paz. Madrid
Verified email at salud.madrid.org
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Cited by
Cited by
Year
An expanded evaluation of protein function prediction methods shows an improvement in accuracy
Y Jiang, TR Oron, WT Clark, AR Bankapur, D D’Andrea, R Lepore, ...
Genome biology 17 (1), 184, 2016
3582016
PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer
E Castro, N Romero-Laorden, A del Pozo, R Lozano, A Medina, J Puente, ...
Journal of Clinical Oncology 37 (6), 490-503, 2019
2382019
Chimeras taking shape: potential functions of proteins encoded by chimeric RNA transcripts
M Frenkel-Morgenstern, V Lacroix, I Ezkurdia, Y Levin, A Gabashvili, ...
Genome research 22 (7), 1231-1242, 2012
1592012
Reconstructing images from their most singular fractal manifold
A Turiel, A Del Pozo
IEEE transactions on Image processing 11 (4), 345-350, 2002
1192002
Comparative proteomics reveals a significant bias toward alternative protein isoforms with conserved structure and function
I Ezkurdia, A del Pozo, A Frankish, JM Rodriguez, J Harrow, K Ashman, ...
Molecular biology and evolution 29 (9), 2265-2283, 2012
962012
Defining functional distances over gene ontology
A Del Pozo, F Pazos, A Valencia
BMC bioinformatics 9 (1), 1-15, 2008
952008
Alternatively spliced homologous exons have ancient origins and are highly expressed at the protein level
F Abascal, I Ezkurdia, J Rodriguez-Rivas, JM Rodriguez, A del Pozo, ...
PLoS computational biology 11 (6), e1004325, 2015
802015
Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
L Rodriguez-Laguna, N Agra, K Ibañez, G Oliva-Molina, G Gordo, ...
Journal of Experimental Medicine 216 (2), 407-418, 2019
742019
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ...
Genetics in Medicine 20 (8), 882-889, 2018
582018
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ...
Molecular genetics & genomic medicine 5 (1), 28-39, 2017
432017
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ...
Clinical genetics 93 (4), 762-775, 2018
422018
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ...
Clinical endocrinology 88 (6), 820-829, 2018
342018
The potential clinical impact of the release of two drafts of the human proteome
I Ezkurdia, E Calvo, A Del Pozo, J Vázquez, A Valencia, ML Tress
Expert review of proteomics 12 (6), 579-593, 2015
302015
A New Overgrowth Syndrome is due to Mutations in RNF125
J Tenorio, A Mansilla, M Valencia, V Martínez‐Glez, V Romanelli, P Arias, ...
Human mutation 35 (12), 1436-1441, 2014
272014
Prioritization of pathogenic mutations in the protein kinase superfamily
JMG Izarzugaza, A del Pozo, M Vazquez, A Valencia
BMC genomics 13 (4), 1-11, 2012
262012
FGF9 mutation causes craniosynostosis along with multiple synostoses
M Rodriguez‐Zabala, M Aza‐Carmona, CI Rivera‐Pedroza, A Belinchón, ...
Human mutation 38 (11), 1471-1476, 2017
192017
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
F Santos-Simarro, E Vallespin, A Del Pozo, K Ibanez, JC Silla, ...
Clinical genetics 92 (3), 350, 2017
182017
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency
W Jones, B Gong, N Novoradovskaya, D Li, R Kusko, TA Richmond, ...
Genome biology 22 (1), 1-38, 2021
162021
A new variant in PHKA2 is associated with glycogen storage disease type IXa
C Rodríguez-Jiménez, F Santos-Simarro, Á Campos-Barros, C Camarena, ...
Molecular genetics and metabolism reports 10, 52-55, 2017
142017
Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
B Gong, D Li, R Kusko, N Novoradovskaya, Y Zhang, S Wang, ...
Genome biology 22 (1), 1-23, 2021
122021
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