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Raphael Helaers

Explore the profile of Raphael Helaers including associated specialties, affiliations and a list of published articles. Areas
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Articles 38
Citations 738
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Recent Articles
1.
Van den Bossche V, Vignau J, Vigneron E, Rizzi I, Zaryouh H, Wouters A, et al.
Nat Commun . 2025 Jan; 16(1):1237. PMID: 39890801
Anti-epidermal growth factor receptor (EGFR) therapy (cetuximab) shows a limited clinical benefit for patients with locally advanced or recurrent/metastatic head and neck squamous cell carcinoma (HNSCC), due to the frequent...
2.
Copelli M, Atique-Tacla M, Pairet E, Correia-Costa G, Henrique de Souza T, Monlleo I, et al.
J Craniomaxillofac Surg . 2025 Jan; 53(4):370-376. PMID: 39855980
This study describes the results of whole exome sequencing in the etiological investigation and genetic counseling of families presenting with non-syndromic oral clefts with vertical transmission recorded in the Brazilian...
3.
Ranji P, Pairet E, Helaers R, Bayet B, Gerdom A, Gil-da-Silva-Lopes V, et al.
Eur J Hum Genet . 2024 Nov; 33(1):38-43. PMID: 39506048
The pathophysiological basis of non-syndromic orofacial cleft (NsOFC) is still largely unclear. However, exome sequencing (ES) has led to identify several causative genes, often with reduced penetrance. Among these, the...
4.
Welsch S, Harvengt A, Gallo P, Martin M, Beckers D, Mouraux T, et al.
Diabetes Metab J . 2024 Mar; 48(5):949-959. PMID: 38523249
Backgruound: Recent diabetes subclassifications have improved the differentiation between patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus despite several overlapping features, yet without considering genetic forms...
5.
De Bortoli M, Queisser A, Pham V, Dompmartin A, Helaers R, Boutry S, et al.
J Invest Dermatol . 2024 Mar; 144(9):2066-2077.e6. PMID: 38431221
Common capillary malformations are red vascular skin lesions, most commonly associated with somatic activating GNAQ or GNA11 mutations. We focused on capillary malformations lacking such a mutation to identify previously...
6.
De Bortoli M, Ivars M, Revencu N, Nassogne M, Lavarino C, Paco S, et al.
Am J Med Genet A . 2024 Feb; 194(6):e63551. PMID: 38321651
Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and...
7.
Boutry S, Helaers R, Lenaerts T, Vikkula M
Brief Bioinform . 2023 Nov; 24(6). PMID: 37974506
Over the past years, progress made in next-generation sequencing technologies and bioinformatics have sparked a surge in association studies. Especially, genome-wide association studies (GWASs) have demonstrated their effectiveness in identifying...
8.
Tacla M, Copelli M, Pairet E, Monlleo I, Ribeiro E, Mendes E, et al.
Eur J Hum Genet . 2023 Nov; 32(10):1257-1266. PMID: 37932364
This study describes genomic findings among individuals with both orofacial clefts (OC) and microphthalmia/anophthalmia/coloboma (MAC) recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole...
9.
Honore N, van der Elst A, Dietz A, van Marcke C, Helaers R, Mendola A, et al.
Eur J Cancer . 2023 Nov; 195:113372. PMID: 37913682
Background: Only 15-20% of recurrent and/or metastatic squamous cell carcinoma of the head and neck (R/M SCCHN) patients derive long-term benefit from nivolumab or pembrolizumab. We developed a circulating tumour...
10.
Boutry S, Helaers R, Lenaerts T, Vikkula M
PLoS Comput Biol . 2023 Sep; 19(9):e1011488. PMID: 37708232
The development of high-throughput next-generation sequencing technologies and large-scale genetic association studies produced numerous advances in the biostatistics field. Various aggregation tests, i.e. statistical methods that analyze associations of a...