Raphaël Helaers

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Miikka VikkulaProfessor of Human Genetics, de Duve Institute, UCLouvainVerified email at uclouvain.be
Laurence M BoonProfessor, Coord. Vasc Anom Ctr, Clin. univ. St Luc, Univ cathol LouvainVerified email at uclouvain.be
Pascal BrouillardPlatform Manager, Institut de Duve, Université catholique de LouvainVerified email at uclouvain.be
Michel C. MilinkovitchFull Professor, Faculty of Sciences, University of Geneva, Switzerland.Verified email at unige.ch
Limaye, Nishade Duve Institute, Université catholique de LouvainVerified email at uclouvain.be
nicole revencuCentre de Génétique Humaine, Cliniques universitaires Saint-Luc, Université catholique de LouvainVerified email at uclouvain.be
Athanasia C. TzikaUniversity of GenevaVerified email at unige.ch
Antonella MendolaMaster of Sciences, Université catholique de Louvain, BruxellesVerified email at uclouvain.be
Matthieu J. SchlögelPh.D. Student, de Duve Institute, Universite catholique de Louvain, BelgiumVerified email at uclouvain.be
Christine GalantUCL/IRECVerified email at uclouvain.be
Jérôme AmbroisePost doc researcher, Université catholique de Louvain, IREC, CTMAVerified email at uclouvain.be
Cédric van MarckeCliniques universitaires Saint-Luc, Université catholique de LouvainVerified email at uclouvain.be
jean-pascal machielsProfesseur, Université catholique de LouvainVerified email at uclouvain.be
Jaakko KangasOulu University HospitalVerified email at fimnet.fi
Sandra SchmitzUCLVerified email at uclouvain.be
Alain ColigeLaboratory of Connective Tissue Biology, GIGA, University of Liege, BelgiumVerified email at uliege.be
Bertrand De MeulderEISBMVerified email at eisbm.org
Hélène A. Poirel (Antoine-Poirel)Professor, Centre for Human Genetics, Clin. univ. st-Luc, Université catholique de LouvainVerified email at uclouvain.be
Demoulin, Jean-BaptisteUniversity of Louvain, de Duve InstituteVerified email at uclouvain.be
Anne DompmartinMédecin Dermatologue CHU CaenVerified email at chu-caen.fr

Raphaël Helaers

Bioinformatician, de Duve Institute, Université catholique de Louvain

Verified email at uclouvain.be

bioinformatics NGS human genetic comparative genomic phylogeny


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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	290	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	240	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	192	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	122	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	104	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	88	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
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
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	50	2021
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	50	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	31	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
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	21	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	20	2021
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	19	2022
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	18	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

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