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Kristina Ibáñez
Kristina Ibáñez
Senior data scientist in genomics
Adresse e-mail validée de qmul.ac.uk - Page d'accueil
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Re: 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
J Clin Oncol 37, 490-503, 2019
2032019
Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses
K Ibáñez, C Boullosa, R Tabarés-Seisdedos, A Baudot, A Valencia
PLoS genetics 10 (2), e1004173, 2014
1572014
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ...
Nature genetics 51 (11), 1560-1565, 2019
1492019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ...
Bioinformatics 35 (22), 4754-4756, 2019
862019
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
762021
A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer’s Disease, Glioblastoma and Lung cancer
J Sánchez-Valle, H Tejero, K Ibáñez, JL Portero, M Krallinger, ...
Scientific reports 7 (1), 1-12, 2017
682017
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
632019
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data
M Frenkel-Morgenstern, A Gorohovski, V Lacroix, M Rogers, K Ibanez, ...
Nucleic acids research 41 (D1), D142-D151, 2012
592012
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
512018
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
362018
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ...
Neuron 109 (3), 448-460. e4, 2021
312021
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
282014
Transcriptomic metaanalyses of autistic brains reveals shared gene expression and biological pathway abnormalities with cancer
J Forés-Martos, F Catalá-López, J Sánchez-Valle, K Ibáñez, H Tejero, ...
Molecular autism 10 (1), 1-16, 2019
252019
Neuronal intranuclear inclusion disease is genetically heterogeneous
Z Chen, W Yan Yau, Z Jaunmuktane, A Tucci, P Sivakumar, ...
Annals of clinical and translational neurology 7 (9), 1716-1725, 2020
212020
Deletion at 6q24. 2–26 predicts longer survival of high-grade serous epithelial ovarian cancer patients
MM Kamieniak, D Rico, RL Milne, I Muñoz-Repeto, K Ibáñez, MA Grillo, ...
Molecular oncology 9 (2), 422-436, 2015
172015
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
162017
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
RS Dhindsa, J Mattsson, A Nag, Q Wang, LV Wain, R Allen, EM Wigmore, ...
Communications biology 4 (1), 1-8, 2021
122021
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ...
The Lancet Neurology 21 (3), 234-245, 2022
112022
Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example
M Palomares-Bralo, E Vallespín, Á Del Pozo, K Ibañez, JC Silla, E Galán, ...
Genetics in Medicine 19 (11), 1285-1286, 2017
112017
Broadening the phenotypic spectrum of POP1‐skeletal dysplasias: Identification of POP1 mutations in a mild and severe skeletal dysplasia
J Barraza‐García, CI Rivera‐Pedroza, A Hisado‐Oliva, ...
Clinical Genetics 92 (1), 91-98, 2017
102017
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