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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 | 444 | 2019 |
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 | 378 | 2019 |
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 | 282 | 2019 |
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 | 213 | 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 | 137 | 2022 |
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 | 128 | 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 | 106 | 2017 |
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 | 81 | 2021 |
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 | 75 | 2018 |
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 | 70 | 2021 |
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 | 68 | 2012 |
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 | 66 | 2018 |
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 | 56 | 2021 |
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 | 54 | 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, 1-16, 2019 | 48 | 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 | 39 | 2014 |
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 | 36 | 2022 |
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 | 25 | 2022 |
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 | 23 | 2017 |