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 | 245 | 2019 |
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 | 207 | 2019 |
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 | 173 | 2021 |
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 | 172 | 2014 |
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 | 128 | 2019 |
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 | 78 | 2019 |
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 | 78 | 2017 |
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 | 61 | 2012 |
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 | 60 | 2018 |
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 | 42 | 2021 |
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 | 42 | 2018 |
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 | 29 | 2020 |
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 | 28 | 2019 |
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 | 28 | 2014 |
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 | 27 | 2022 |
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 | 26 | 2021 |
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 | 19 | 2021 |
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 | 18 | 2017 |
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 | 18 | 2015 |
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 | 13 | 2017 |