متابعة
Angela del Pozo
Angela del Pozo
Head of Bioinformatics Section. INGEMM - Hospital Universitario La Paz. Madrid
بريد إلكتروني تم التحقق منه على salud.madrid.org
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
4122016
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
3212019
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
1652012
Reconstructing images from their most singular fractal manifold
A Turiel, A Del Pozo
IEEE transactions on Image processing 11 (4), 345-350, 2002
1172002
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
1082019
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
1022012
Defining functional distances over gene ontology
A del Pozo, F Pazos, A Valencia
BMC bioinformatics 9, 1-15, 2008
962008
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
912015
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
692018
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
532018
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
512017
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
422018
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
362014
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
302021
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
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
262017
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
252012
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), 350-351, 2017
232017
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
212021
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
202017
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مقالات 1–20