Université Catholique de Louvain
Pascal Brouillard
Avenue Hippocrate 74
Brussels 1200
https://uclouvain.be/en/technology-platforms/pgen.html
RRID: RRID:SCR_023707
Affymetrix GeneChip 3000 7G Microarray Scanner
Microarray scanner that is an extension of the GeneChip Scanner 3000 (GCS 3000) series that allows you to scan next-generation higher-density arrays, including SNP arrays with up to 900,000 SNPs, tiling arrays for transcription and all-exon arrays for whole-genome analysis. [Product Link]
RRID:SCR_019341
Illumina MiSeq System
Access focused applications such as targeted resequencing, metagenomics, small genome sequencing, targeted gene expression profiling, and more. MiSeq reagents enable up to 15 Gb of output with 25 million sequencing reads and 2 × 300 bp read lengths. [Product Link]
RRID:SCR_020134
High Performance Computing Cluster
ThermoFisher Scientific SeqStudio Genetic Analyzer
Sanger sequencer and fragment analyzer
Computational - Bioinformatics
Computational - High Performance Computing
Copy Number Variation (CNV)
Data Analysis
Data Analysis And Interpretation
Data Processing
Data Processing And Interpretation
Data Visualization
DNA Analysis
Genomics
Genotyping
Genotyping-by-sequencing
Microarray
Pipeline Development
Sequencing - Capillary Sequencing
Sequencing - DNA Sequencing
Sequencing - Next Generation Sequencing (NGS)
Whole Exome Sequencing
Whole Genome Sequencing
1.) Alpaslan M, Mestré-Godin S, Lay A, Giacalone G, Helaers R, Adham S, Kovacsik H, Guillemard S, Mercier E, Boon L, Revencu N, Brouillard P, Quere I, Vikkula M (2023 May 24). Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants. Journal of medical genetics, (), . pii: jmg-2023-109171. doi: 10.1136/jmg-2023-109171. ID: 37225411.
2.) Afshar Y, Ma F, Quach A, Jeong A, Sunshine HL, Freitas V, Jami-Alahmadi Y, Helaers R, Li X, Pellegrini M, Wohlschlegel JA, Romanoski CE, Vikkula M, Iruela-Arispe ML (2023 Mar 27). Transcriptional drifts associated with environmental changes in endothelial cells. eLife, 12(), . . ID: 36971339.
3.) Cloos AS, Pollet H, Stommen A, Maja M, Lingurski M, Brichard B, Lambert C, Henriet P, Pierreux C, Pyr Dit Ruys S, Van Der Smissen P, Vikkula M, Gatto L, Martin M, Brouillard P, Vertommen D, Tyteca D (2023 Feb 8). Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance but not maturation defects. Blood advances, (), . pii: bloodadvances.2022009114. doi: 10.1182/bloodadvances.2022009114. ID: 36753606.
4.) Smeland MF, Brouillard P, Prescott T, Boon LM, Hvingel B, Nordbakken CV, Nystad M, Holla ØL, Vikkula M (2023 Jan). Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis. Journal of medical genetics, 60(1), 57-64. . ID: 34876502.
5.) Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL (2022 Mar 2). Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science translational medicine, 14(634), eabm4869. doi: 10.1126/scitranslmed.abm4869. ID: 35235341.
6.) Greene AK, Brouillard P, Sudduth CL, Smits PJ, Konczyk DJ, Vikkula M (2021 Dec). EPHB4 mutation causes adult and adolescent-onset primary lymphedema. American journal of medical genetics. Part A, 185(12), 3810-3813. doi: 10.1002/ajmg.a.62416. ID: 34231312.
7.) Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M (2021 Oct 21). Primary lymphoedema. Nature reviews. Disease primers, 7(1), 77. doi: 10.1038/s41572-021-00309-7. ID: 34675250.
8.) Homayun-Sepehr N, McCarter AL, Helaers R, Galant C, Boon LM, Brouillard P, Vikkula M, Dellinger MT (2021 Aug 9). KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. JCI insight, 6(15), . . ID: 34156985.
9.) Coulie R, Niyazov DM, Gambello MJ, Fastré E, Brouillard P, Vikkula M (2021 Jul). Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum. American journal of medical genetics. Part A, 185(7), 2153-2159. doi: 10.1002/ajmg.a.62205. ID: 33851505.
10.) Brouillard P, Schlögel MJ, Homayun Sepehr N, Helaers R, Queisser A, Fastré E, Boutry S, Schmitz S, Clapuyt P, Hammer F, Dompmartin A, Weitz-Tuoretmaa A, Laranne J, Pasquesoone L, Vilain C, Boon LM, Vikkula M (2021 Jun 10). Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations. Orphanet journal of rare diseases, 16(1), 267. . ID: 34112235.
11.) El-Sibai M, El Hajj J, Al Haddad M, El Baba N, Al Saneh M, Daoud Khatoun W, Helaers R, Vikkula M, El Atat O, Sabbagh J, Abou Chebel N, Ghassibe-Sabbagh M (2021 Mar). Dysregulation of Rho GTPases in orofacial cleft patients-derived primary cells leads to impaired cell migration, a potential cause of cleft/lip palate development. Cells & development, 165(), 203656. doi: 10.1016/j.cdev.2021.203656. ID: 34024335.
12.) Witte MH, Erickson RP, Luy L, Brouillard P, Vikkula M (2021). Human chromosome map of lymphedema-lymphangiogenesis genes: Template for current and future discovery. Lymphology, 54(4), 167-169. . ID: 35073620.
13.) Leppänen VM, Brouillard P, Korhonen EA, Sipilä T, Jha SK, Revencu N, Labarque V, Fastré E, Schlögel M, Ravoet M, Singer A, Luzzatto C, Angelone D, Crichiutti G, D (2020 Sep 9). Characterization of ANGPT2 mutations associated with primary lymphedema. Science translational medicine, 12(560), . pii: eaax8013. doi: 10.1126/scitranslmed.aax8013. ID: 32908006.
14.) Hansmann P, Brückner A, Kiontke S, Berkenfeld B, Seebohm G, Brouillard P, Vikkula M, Jansen FE, Nellist M, Oeckinghaus A, Kümmel D (2020 Aug 4). Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations. Structure (London, England : 1993), 28(8), 933-942.e4. doi: 10.1016/j.str.2020.05.008. ID: 32502382.
15.) Pollet H, Cloos AS, Stommen A, Vanderroost J, Conrard L, Paquot A, Ghodsi M, Carquin M, Léonard C, Guthmann M, Lingurski M, Vermylen C, Killian T, Gatto L, Rider M, Pyr Dit Ruys S, Vertommen D, Vikkula M, Brouillard P, Van Der Smissen P, Muccioli GG, Tyteca D (2020 Jul 29). Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis. Biomolecules, 10(8), . . ID: 32751168.
16.) Martinez-Corral I, Zhang Y, Petkova M, Ortsäter H, Sjöberg S, Castillo SD, Brouillard P, Libbrecht L, Saur D, Graupera M, Alitalo K, Boon L, Vikkula M, Mäkinen T (2020 Jun 8). Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation. Nature communications, 11(1), 2869. . ID: 32513927.
17.) Galot R, van Marcke C, Helaers R, Mendola A, Goebbels RM, Caignet X, Ambroise J, Wittouck K, Vikkula M, Limaye N, Machiels JH (2020 May). Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma. Oral oncology, 104(), 104631. doi: 10.1016/j.oraloncology.2020.104631. ID: 32169746.
18.) Van Marcke C, Helaers R, De Leener A, Merhi A, Schoonjans CA, Ambroise J, Galant C, Delrée P, Rothé F, Bar I, Khoury E, Brouillard P, Canon JL, Vuylsteke P, Machiels JP, Berlière M, Limaye N, Vikkula M, Duhoux FP (2020 Apr 15). Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families. Breast cancer research : BCR, 22(1), 36. . ID: 32295625.
19.) d (2020 Feb 13). First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing. Tropical medicine and infectious disease, 5(1), . . ID: 32069939.
20.) Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M (2020 Jan). RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Journal of medical genetics, 57(1), 48-52. doi: 10.1136/jmedgenet-2019-106024. ID: 31300548.
21.) Demeer B, Revencu N, Helaers R, Gbaguidi C, Dakpe S, François G, Devauchelle B, Bayet B, Vikkula M (2019 Oct 22). Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients. Genes, 10(10), . . ID: 31652620.
22.) Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M (2019 Mar). SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Annals of neurology, 85(3), 385-395. doi: 10.1002/ana.25412. ID: 30635937.
23.) Demeer B, Revencu N, Helaers R, Devauchelle B, François G, Bayet B, Vikkula M (2018 Dec). Unmasking familial CPX by WES and identification of novel clinical signs. American journal of medical genetics. Part A, 176(12), 2661-2667. doi: 10.1002/ajmg.a.40630. ID: 30462376.
24.) Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M (2018 Jul). 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. Journal of medical genetics, 55(7), 449-458. doi: 10.1136/jmedgenet-2017-105110. ID: 29500247.
25.) Fastré E, Lanteigne LE, Helaers R, Giacalone G, Revencu N, Dionyssiou D, Demiri E, Brouillard P, Vikkula M (2018 Jul). Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. Clinical genetics, 94(1), 179-181. doi: 10.1111/cge.13204. ID: 29542815.
26.) Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M (2017 Nov 1). Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Human molecular genetics, 26(21), 4095-4104. doi: 10.1093/hmg/ddx297. ID: 28985353.
27.) Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula (2017 Sep 12). Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation, 136(11), 1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. ID: 28687708.
Genomics platform of UCLouvain
