| Somatic activating PIK3CA mutations cause venous malformation N Limaye, J Kangas, A Mendola, C Godfraind, MJ Schlögel, R Helaers, ... The American Journal of Human Genetics 97 (6), 914-921, 2015 | 296 | 2015 |
| Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ... Circulation 136 (11), 1037-1048, 2017 | 243 | 2017 |
| Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations J Soblet, J Kangas, M Nätynki, A Mendola, R Helaers, M Uebelhoer, ... Journal of Investigative Dermatology 137 (1), 207-216, 2017 | 198 | 2017 |
| MetaPIGA v2. 0: maximum likelihood large phylogeny estimation using the metapopulation genetic algorithm and other stochastic heuristics R Helaers, MC Milinkovitch BMC bioinformatics 11, 1-11, 2010 | 123 | 2010 |
| Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3 P Brouillard, L Dupont, R Helaers, R Coulie, GE Tiller, J Peeden, A Colige, ... Human Molecular Genetics 26 (21), 4095-4104, 2017 | 114 | 2017 |
| Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes M Basha, B Demeer, N Revencu, R Helaers, S Theys, SB Saba, O Boute, ... Journal of medical genetics 55 (7), 449-458, 2018 | 106 | 2018 |
| PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis FA Arts, R Sciot, B Brichard, M Renard, A de Rocca Serra, G Dachy, ... Human molecular genetics 26 (10), 1801-1810, 2017 | 89 | 2017 |
| Reptilian-transcriptome v1. 0, a glimpse in the brain transcriptome of five divergent Sauropsida lineages and the phylogenetic position of turtles AC Tzika, R Helaers, G Schramm, MC Milinkovitch Evodevo 2, 1-19, 2011 | 72 | 2011 |
| 2× genomes-depth does matter MC Milinkovitch, R Helaers, E Depiereux, AC Tzika, T Gabaldón Genome biology 11, 1-12, 2010 | 62 | 2010 |
| KRAS-driven model of Gorham-Stout disease effectively treated with trametinib N Homayun-Sepehr, AL McCarter, R Helaers, C Galant, LM Boon, ... JCI insight 6 (15), 2021 | 51 | 2021 |
| Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma R Galot, C van Marcke, R Helaers, A Mendola, RM Goebbels, X Caignet, ... Oral oncology 104, 104631, 2020 | 51 | 2020 |
| RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation N Revencu, E Fastre, M Ravoet, R Helaers, P Brouillard, ... Journal of medical genetics 57 (1), 48-52, 2020 | 51 | 2020 |
| Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations P Brouillard, MJ Schlögel, N Homayun Sepehr, R Helaers, A Queisser, ... Orphanet journal of rare diseases 16 (1), 267, 2021 | 33 | 2021 |
| SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation JP Dewulf, E Wiame, I Dorboz, M Elmaleh‐Bergès, A Imbard, D Dumitriu, ... Annals of neurology 85 (3), 385-395, 2019 | 27 | 2019 |
| Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema AB Byrne, P Brouillard, DL Sutton, J Kazenwadel, S Montazaribarforoushi, ... Science translational medicine 14 (634), eabm4869, 2022 | 23 | 2022 |
| Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. E Fastre, LE Lanteigne, R Helaers, G Giacalone, N Revencu, ... Clinical genetics 94 (1), 179, 2018 | 23 | 2018 |
| How to choose the right real-time RT-PCR primer sets for the SARS-CoV-2 genome detection? A Anantharajah, R Helaers, JP Defour, N Olive, F Kabera, L Croonen, ... Journal of virological methods 295, 114197, 2021 | 21 | 2021 |
| KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors L Evenepoel, R Helaers, L Vroonen, S Aydin, M Hamoir, D Maiter, ... Endocrine-Related Cancer 24 (8), L57-L61, 2017 | 19 | 2017 |
| Historical constraints on vertebrate genome evolution MC Milinkovitch, R Helaers, AC Tzika Genome biology and evolution 2, 13-18, 2010 | 18 | 2010 |
| MANTIS: a phylogenetic framework for multi-species genome comparisons AC Tzika, R Helaers, Y Van de Peer, MC Milinkovitch Bioinformatics 24 (2), 151-157, 2008 | 18 | 2008 |
Miikka VikkulaProfessor of Human Genetics, de Duve Institute, UCLouvain在 uclouvain.be 的电子邮件经过验证
