| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma X Bonilla, L Parmentier, B King, F Bezrukov, G Kaya, V Zoete, ... Nature genetics 47 (3), 398, 2016 | 450 | 2016 |
| Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain SI Nikolaev, S Vetiska, X Bonilla, E Boudreau, S Jauhiainen, ... New England Journal of Medicine 378 (3), 250-261, 2018 | 390 | 2018 |
| Domains of genome-wide gene expression dysregulation in Down’s syndrome A Letourneau, FA Santoni, X Bonilla, MR Sailani, D Gonzalez, J Kind, ... Nature 508 (7496), 345-350, 2014 | 299 | 2014 |
| The tumor profiler study: integrated, multi-omic, functional tumor profiling for clinical decision support A Irmisch, X Bonilla, S Chevrier, KV Lehmann, F Singer, N Toussaint, ... Cancer cell, 2020 | 89 | 2020 |
| DNA-methylation patterns in trisomy 21 using cells from monozygotic twins MR Sailani, FA Santoni, A Letourneau, C Borel, P Makrythanasis, ... PloS one 10 (8), e0135555, 2015 | 50 | 2015 |
| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome N Chen, S Zhao, A Jolly, L Wang, H Pan, J Yuan, S Chen, A Koch, C Ma, ... The American Journal of Human Genetics 108 (2), 337-345, 2021 | 47 | 2021 |
| SCIM: universal single-cell matching with unpaired feature sets SG Stark, J Ficek, F Locatello, X Bonilla, S Chevrier, F Singer, G Rätsch, ... Bioinformatics 36 (Supplement_2), i919-i927, 2020 | 44 | 2020 |
| Building an international consortium for tracking coronavirus health status E Segal, F Zhang, X Lin, G King, O Shalem, S Shilo, WE Allen, ... Nature medicine 26 (8), 1161-1165, 2020 | 39 | 2020 |
| Establishing standardized immune phenotyping of metastatic melanoma by digital pathology B Sobottka, M Nowak, AL Frei, M Haberecker, S Merki, MP Levesque, ... Laboratory investigation 101 (12), 1561-1570, 2021 | 20 | 2021 |
| Allele-specific expression: applications in cancer and technical considerations CD Robles-Espinoza, P Mohammadi, X Bonilla, M Gutierrez-Arcelus Current opinion in genetics & development 66, 10-19, 2021 | 19 | 2021 |
| Human genome meeting 2016: houston, TX, USA. 28 February-2 March 2016 AK Srivastava, Y Wang, R Huang, C Skinner, T Thompson, L Pollard, ... Human genomics 10, 1-40, 2016 | 17 | 2016 |
| Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency P Forny, X Bonilla, D Lamparter, W Shao, T Plessl, C Frei, A Bingisser, ... Nature Metabolism 5 (1), 80-95, 2023 | 11 | 2023 |
| scAmpi—A versatile pipeline for single-cell RNA-seq analysis from basics to clinics A Bertolini, M Prummer, MA Tuncel, U Menzel, ML Rosano-González, ... PLoS computational biology 18 (6), e1010097, 2022 | 11 | 2022 |
| No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients ASE Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo XB, Kates WR ... Translational Psychiatry, 2017 | 9 | 2017 |
| Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome C Ma, N Chen, A Jolly, S Zhao, Z Coban-Akdemir, W Tian, J Kang, Y Ye, ... Genetics in Medicine 24 (11), 2262-2273, 2022 | 4 | 2022 |
| Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-coa mutase deficiency P Forny, X Bonilla, D Lamparter, W Shao, T Plessl, C Frei, A Bingisser, ... BMJ: British medical journal, 38, 2022 | 3* | 2022 |
| Correction: Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome A Letourneau, FA Santoni, X Bonilla, M Reza Sailani, D Gonzalez, J Kind, ... Nature 531 (7594), 400-400, 2016 | 2 | 2016 |
| A deep learning approach for improved detection of homologous recombination deficiency from shallow genomic profiles G Andre, T Coletta, C Pozzorini, AC Marques, J Bieler, R Kempfer, ... bioRxiv, 2022.07. 06.498851, 2022 | 1 | 2022 |
| Identification de nouveaux gènes impliqués dans les carcinomes basocellulaires sporadiques L Parmentier, X Bonilla, B King, F Bezrukov, G Kaya, V Zoete, ... Annales de Dermatologie et de Vénéréologie 143 (12), S185-S186, 2016 | 1 | 2016 |
| Integrated multi-omic analysis of a rare inborn error of metabolism P Forny, X Bonilla Bustillo, D Lamparter, W Shao, T Plessl, C Frei, ... Molecular Genetics and Metabolism 135, 271-272, 2022 | | 2022 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
