Theo dõi
Raphaël Helaers
Raphaël Helaers
Bioinformatician, de Duve Institute, Université catholique de Louvain
Email được xác minh tại uclouvain.be
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
3222015
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
2762017
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
2272017
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
1272010
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
1242017
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
1182018
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
982017
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
732011
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
652020
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
632020
2× genomes-depth does matter
MC Milinkovitch, R Helaers, E Depiereux, AC Tzika, T Gabaldón
Genome biology 11, 1-12, 2010
632010
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), e149831, 2021
622021
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
422021
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
302019
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
282021
Transcriptional drifts associated with environmental changes in endothelial cells
Y Afshar, F Ma, A Quach, A Jeong, HL Sunshine, V Freitas, ...
Elife 12, e81370, 2023
272023
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
272022
Splice‐site mutations in VEGFC cause loss of function and Nonne‐Milroy‐like primary lymphedema.
E Fastré, L Lanteigne, R Helaers, G Giacalone, N Revencu, D Dionyssiou, ...
Clinical genetics 94 (1), 2018
252018
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
212017
Tumor-agnostic plasma assay for circulating tumor DNA detects minimal residual disease and predicts outcome in locally advanced squamous cell carcinoma of the head and neck
N Honoré, C van Marcke, R Galot, R Helaers, J Ambroise, A van Maanen, ...
Annals of Oncology 34 (12), 1175-1186, 2023
202023
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Bài viết 1–20