| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 719 | 2021 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 222 | 2022 |
| DOMINO: using machine learning to predict genes associated with dominant disorders M Quinodoz, B Royer-Bertrand, K Cisarova, SA Di Gioia, A Superti-Furga, ... The American Journal of Human Genetics 101 (4), 623-629, 2017 | 104 | 2017 |
| A first update on mapping the human genetic architecture of COVID-19 Writing group lead Andrews Shea J. 6 Kanai Masahiro 3 Cordioli Mattia 7, ... Nature 608 (7921), E1-E10, 2022 | 91 | 2022 |
| Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator L Allou, S Balzano, A Magg, M Quinodoz, B Royer-Bertrand, R Schöpflin, ... Nature 592 (7852), 93-98, 2021 | 89 | 2021 |
| AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data M Quinodoz, VG Peter, N Bedoni, B Royer Bertrand, K Cisarova, ... Nature communications 12 (1), 518, 2021 | 79 | 2021 |
| Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis G Fregni, M Quinodoz, E Möller, J Vuille, S Galland, C Fusco, P Martin, ... EBioMedicine 29, 128-145, 2018 | 57 | 2018 |
| Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq V Hahaut, D Pavlinic, W Carbone, S Schuierer, P Balmer, M Quinodoz, ... Nature biotechnology 40 (10), 1447-1451, 2022 | 50 | 2022 |
| Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity M Quinodoz, VG Peter, K Cisarova, B Royer-Bertrand, PD Stenson, ... The American Journal of Human Genetics 109 (3), 457-470, 2022 | 38 | 2022 |
| The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene VG Peter, M Quinodoz, J Pinto-Basto, SB Sousa, SA Di Gioia, G Soares, ... Genetics in medicine 21 (12), 2734-2743, 2019 | 38 | 2019 |
| Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters M Quinodoz, C Gobet, F Naef, KB Gustafson Genome biology 15, 1-15, 2014 | 36 | 2014 |
| CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels AB Gonçalves, SK Hasselbalch, BB Joensen, S Patzke, P Martens, ... Elife 10, e63731, 2021 | 30 | 2021 |
| Transcriptomic signature differences between SARS-CoV-2 and influenza virus infected patients S Bibert, N Guex, J Lourenco, T Brahier, M Papadimitriou-Olivgeris, ... Frontiers in immunology 12, 666163, 2021 | 29 | 2021 |
| Likelihood-free inference in high-dimensional models A Kousathanas, C Leuenberger, J Helfer, M Quinodoz, M Foll, ... Genetics 203 (2), 893-904, 2016 | 29 | 2016 |
| A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy K Nikopoulos, K Cisarova, M Quinodoz, H Koskiniemi-Kuendig, N Miyake, ... Nature communications 10 (1), 2884, 2019 | 28 | 2019 |
| Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ... PLoS genetics 18 (11), e1010367, 2022 | 27 | 2022 |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations LH Rodan, RC Spillmann, HT Kurata, SM Lamothe, J Maghera, RA Jamra, ... Genetics in medicine 23 (10), 1922-1932, 2021 | 26 | 2021 |
| Identification of inherited retinal disease-associated genetic variants in 11 candidate genes GDN Astuti, LI van Den Born, MI Khan, CP Hamel, B Bocquet, G Manes, ... Genes 9 (1), 21, 2018 | 26 | 2018 |
| Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice AR Moye, N Bedoni, JG Cunningham, U Sanzhaeva, ES Tucker, ... PLoS genetics 15 (8), e1008315, 2019 | 24 | 2019 |
| New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV VG Peter, M Quinodoz, S Sadio, S Held, M Rodrigues, M Soares, ... Human Mutation 42 (3), 261-271, 2021 | 22 | 2021 |
