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Kristina Ibáñez
Kristina Ibáñez
Senior data scientist in genomics
Verified email at qmul.ac.uk - Homepage
Title
Cited by
Cited by
Year
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
5222021
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
4442019
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
3782019
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
2822019
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
2132014
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
1372022
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
1282019
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
1062017
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
812021
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
752018
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ...
Bmj 375, 2021
702021
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
682012
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
662018
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), 392, 2021
562021
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
542020
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, 1-16, 2019
482019
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
392014
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
E Dolzhenko, B Weisburd, K Ibañez, IS Rajan-Babu, C Anyansi, ...
Genome medicine 14 (1), 84, 2022
362022
Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy
A Bacq, D Roussel, T Bonduelle, S Zagaglia, M Maletic, T Ribierre, ...
Annals of Neurology 91 (1), 101-116, 2022
252022
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants
F Santos-Simarro, E Vallespin, A Del Pozo, K Ibañez, JC Silla, ...
Clinical genetics 92 (3), 350-351, 2017
232017
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